Honorary Professor Amanda Spurdle

Davidson, Aimee L., Michailidou, Kyriaki, Parsons, Michael T., Fortuno, Cristina, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Naven, Marc, Abubakar, Mustapha, Ahearn, Thomas U., Alonso, M. Rosario, Andrulis, Irene L., Antoniou, Antonis C., Auvinen, Päivi, Behrens, Sabine, Bermisheva, Marina A., Bogdanova, Natalia V., Bojesen, Stig E., Brüning, Thomas, Byers, Helen J., Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Sahlberg, Kristine K., Børresen-Dale, Anne-Lise ... Spurdle, Amanda B. (2024). Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset. The American Journal of Human Genetics, 111 (9), 2059-2069. doi: 10.1016/j.ajhg.2024.07.004

Fortuno, Cristina, Michailidou, Kyriaki, Parsons, Michael, Dolinsky, Jill S., Pesaran, Tina, Yussuf, Amal, Mester, Jessica L., Hruska, Kathleen S., Hiraki, Susan, O'Connor, Robert, Chan, Raymond C., Kim, Serra, Tavtigian, Sean, Goldgar, David, James, Paul A. and Spurdle, Amanda B. (2024). Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Human Molecular Genetics, 33 (8), 724-732. doi: 10.1093/hmg/ddae009

Haycock, Philip C, Borges, Maria Carolina, Burrows, Kimberley, Lemaitre, Rozenn N, Harrison, Sean, Burgess, Stephen, Chang, Xuling, Westra, Jason, Khankari, Nikhil K, Tsilidis, Kostas K, Gaunt, Tom, Hemani, Gibran, Zheng, Jie, Truong, Therese, O'Mara, Tracy A, Spurdle, Amanda B, Law, Matthew H, Slager, Susan L, Birmann, Brenda M, Saberi Hosnijeh, Fatemeh, Mariosa, Daniela, Amos, Christopher I, Hung, Rayjean J, Zheng, Wei, Gunter, Marc J, Davey Smith, George, Relton, Caroline and Martin, Richard M (2023). Design and quality control of large-scale two-sample Mendelian randomization studies. International Journal of Epidemiology, 52 (5), 1498-1521. doi: 10.1093/ije/dyad018

Walker, Logan C., Hoya, Miguel de la, Wiggins, George A R, Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T., Canson, Daffodil M., Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B., Pesaran, Tina, Karam, Rachid, Harrison, Steven M., Spurdle, Amanda B. and ClinGen Sequence Variant Interpretation Working Group (2023). Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. American Journal of Human Genetics, 110 (7), 1046-1067. doi: 10.1016/j.ajhg.2023.06.002

Canson, Daffodil M., O’Mara, Tracy A., Spurdle, Amanda B. and Glubb, Dylan M. (2023). Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes. Human Genetics and Genomics Advances, 4 (2) 100185, 1-7. doi: 10.1016/j.xhgg.2023.100185

Canson, Daffodil M., Davidson, Aimee L., de la Hoya, Miguel, Parsons, Michael T., Glubb, Dylan M., Kondrashova, Olga and Spurdle, Amanda B. (2023). SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion. Bioinformatics, 39 (4) btad179, 1-3. doi: 10.1093/bioinformatics/btad179

Canson, Daffodil, Glubb, Dylan and Spurdle, Amanda B. (2022). Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. Human Mutation, 43 (12), 2328-2328. doi: 10.1002/humu.24500

Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Baker, Naomi, Baxter, Leanne, Beilby, John, Bennetts, Bruce, Beshay, Victoria, Black, Michael, Boughtwood, Tiffany F., Brion, Kristian, Cheong, Pak Leng, Christie, Michael, Christodoulou, John, Chong, Belinda, Cox, Kathy, Davis, Mark R., Dejong, Lucas, Dinger, Marcel E., Doig, Kenneth D., Douglas, Evelyn, Dubowsky, Andrew, Ellul, Melissa, Fellowes, Andrew, Fisk, Katrina, Fortuno, Cristina, Friend, Kathryn, Gallagher, Renee L. ... and on behalf of the Shariant Consortium (2022). Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation. American Journal of Human Genetics, 109 (11), 1960-1973. doi: 10.1016/j.ajhg.2022.10.006

Canson, Daffodil M., Dumenil, Troy, Parsons, Michael T., O'Mara, Tracy A., Davidson, Aimee L., Okano, Satomi, Signal, Bethany, Mercer, Tim R., Glubb, Dylan M. and Spurdle, Amanda B. (2022). The splicing effect of variants at branchpoint elements in cancer genes. Genetics in Medicine, 24 (2), 398-409. doi: 10.1016/j.gim.2021.09.020

Pope, Bernard J., Clendenning, Mark, Rosty, Christophe, Mahmood, Khalid, Georgeson, Peter, Joo, Jihoon E., Walker, Romy, Hutchinson, Ryan A., Jayasekara, Harindra, Joseland, Sharelle, Como, Julia, Preston, Susan, Spurdle, Amanda B., Macrae, Finlay A., Win, Aung K., Hopper, John L., Jenkins, Mark A., Winship, Ingrid M. and Buchanan, Daniel D. (2021). Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. Journal of Molecular Diagnostics, 23 (3), 358-371. doi: 10.1016/j.jmoldx.2020.12.003

Canson, Daffodil, Dumenil, Troy, Parsons, Michael, O’Mara, Tracy, Davidson, Aimee , Okano, Satomi , Signal, Bethany , Mercer, Tim, Glubb, Dylan and Spurdle, Amanda (2021). The Impact of Variants at Branchpoint Splicing Elements in Cancer Genes. SSRN Electronic Journal, 24 (2), 398-409. doi: 10.2139/ssrn.3933049

Johnatty, Sharon E., Stewart, Colin J. R., Smith, Deborah, Nguyen, Anthony, O’ Dwyer, John, O’Mara, Tracy A., Webb, Penelope M. and Spurdle, Amanda B. (2020). Co-existence of leiomyomas, adenomyosis and endometriosis in women with endometrial cancer. Scientific Reports, 10 (1) 3621. doi: 10.1038/s41598-020-59916-1

Canson, Daffodil, Glubb, Dylan and Spurdle, Amanda B. (2020). Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. Human Mutation, 41 (10) humu.24074, 1705-1721. doi: 10.1002/humu.24074

Drost, Mark, Tiersma, Yvonne, Thompson, Bryony A., Frederiksen, Jane H., Keijzers, Guido, Glubb, Dylan, Kathe, Scott, Osinga, Jan, Westers, Helga, Pappas, Lisa, Boucher, Kenneth M., Molenkamp, Siska, Zonneveld, José B., van Asperen, Christi J., Goldgar, David E., Wallace, Susan S., Sijmons, Rolf H., Spurdle, Amanda B., Rasmussen, Lene J., Greenblatt, Marc S., de Wind, Niels and Tavtigian, Sean V. (2019). A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome. Genetics in Medicine, 21 (7), 1486-1496. doi: 10.1038/s41436-018-0372-2

Joo, Jihoon E., Dowty, James G., Milne, Roger L., Wong, Ee Ming, Dugué, Pierre-Antoine, English, Dallas, Hopper, John L., Goldgar, David E., Giles, Graham G., Southey, Melissa C., kConFab, Sexton, Adrienne, Christian, Alice, Trainer, Alison, Spigelman, Allan, Fellows, Andrew, Shelling, Andrew, De Fazio, Anna, Blackburn, Anneke, Crook, Ashley, Meiser, Bettina, Patterson, Briony, Clarke, Christine, Saunders, Christobel, Hunt, Clare, Scott, Clare, Amor, David, Marsh, Deborah, Edkins, Edward ... Antill, Yoland (2018). Heritable DNA methylation marks associated with susceptibility to breast cancer. Nature Communications, 9 (1) 867. doi: 10.1038/s41467-018-03058-6

Dadaev, Tokhir, Saunders, Edward J., Newcombe, Paul J., Anokian, Ezequiel, Leongamornlert, Daniel A., Brook, Mark N., Cieza-Borrella, Clara, Mijuskovic, Martina, Wakerell, Sarah, Olama, Ali Amin Al, Schumacher, Fredrick R., Berndt, Sonja I., Benlloch, Sara, Ahmed, Mahbubl, Goh, Chee, Sheng, Xin, Zhang, Zhuo, Muir, Kenneth, Govindasami, Koveela, Lophatananon, Artitaya, Stevens, Victoria L., Gapstur, Susan M., Carter, Brian D., Tangen, Catherine M., Goodman, Phyllis, Thompson, Ian M., Batra, Jyotsna, Chambers, Suzanne, Moya, Leire ... The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium (2018). Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants. Nature Communications, 9 (1) 2256. doi: 10.1038/s41467-018-04109-8

Smith, Deborah, Stewart, Colin J. R., Clarke, Edward M., Lose, Felicity, Davies, Claire, Armes, Jane, Obermair, Andreas, Brennan, Donal, Webb, Penelope M., Nagle, Christina M. and Spurdle, Amanda B. (2017). ER and PR expression and survival after endometrial cancer. Gynecologic Oncology, 148 (2), 258-266. doi: 10.1016/j.ygyno.2017.11.027

Johnatty, Sharon E., Tan, Yen Y., Buchanan, Daniel D., Bowman, Michael, Walters, Rhiannon J., Obermair, Andreas, Quinn, Michael A., Blomfield, Penelope B., Brand, Alison, Leung, Yee, Oehler, Martin K., ANECS Group, Kirk, Judy A., O'Mara, Tracy A., Webb, Penelope M. and Spurdle, Amanda B. (2017). Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: implications for genetic counselling. Gynecologic Oncology, 147 (2), 381-387. doi: 10.1016/j.ygyno.2017.08.011

Kuchenbaecker, Karoline B., McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Soucy, Penny, Dennis, Joe, Domchek, Susan M., Robson, Mark, Spurdle, Amanda B., Ramus, Susan J., Mavaddat, Nasim, Terry, Mary Beth, Neuhausen, Susan L., Schmutzler, Rita Katharina, Simard, Jacques, Pharoah, Paul D.P., Offit, Kenneth, Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Antoniou, Antonis C., Healey, Sue, Lush, Michael, Hamann, Ute, Southey, Melissa, John, Esther M., Chung, Wendy K., Daly, Mary B., Buys, Saundra S. ... Lester, Jenny (2017). Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers. Journal of the National Cancer Institute, 109 (7) ARTN djw302. doi: 10.1093/jnci/djw302

Southey, Melissa C., Goldgar, David E., Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D., Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J., Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L., Dörk, Thilo, Claes, Kathleen B.M., Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A., Dowty, James G., Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., Verhoef, Senno, Carpenter, Jane, Clarke, Christine ... Australian Ovarian Cancer Study Group (2016). PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS. Journal of Medical Genetics, 53 (12), 800-811. doi: 10.1136/jmedgenet-2016-103839

Painter, Jodie N., O'Mara, Tracy A., Marquart, Louise, Webb, Penelope M., Attia, John, Medland, Sarah E., Cheng, Timothy, Dennis, Joe, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Ahmed, Shahana, Healey, Catherine S., Shah, Mitul, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley V., Beckmann, Matthias W., Ekici, Arif B., Fasching, Peter A., Hein, Alexander, Rübner, Matthias, Czene, Kamila, Darabi, Hatef, Hall, Per, Li, Jingmei, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter ... Spurdle, Amanda B. (2016). Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer. Cancer Epidemiology Biomarkers and Prevention, 25 (11), 1503-1510. doi: 10.1158/1055-9965.EPI-16-0147

Painter, Jodie N., Kaufmann, Susanne, O'Mara, Tracy A., Hillman, Kristine M., Sivakumaran, Haran, Darabi, Hatef, Cheng, Timothy H.T., Pearson, John, Kazakoff, Stephen, Waddell, Nicola, Hoivik, Erling A., Goode, Ellen L., Scott, Rodney J., Tomlinson, Ian, Dunning, Alison M., Easton, Douglas F., French, Juliet D., Salvesen, Helga B., Pollock, Pamela M., Thompson, Deborah J., Spurdle, Amanda B. and Edwards, Stacey L. (2016). A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding. American Journal of Human Genetics, 98 (6), 1159-1169. doi: 10.1016/j.ajhg.2016.04.012

Thompson, Deborah J., O'Mara, Tracy A., Glubb, Dylan M., Painter, Jodie N., Cheng, Timothy, Folkerd, Elizabeth, Doody, Deborah, Dennis, Joe, Webb, Penelope M., Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Michailidou, Kyriaki, Tyrer, Jonathan P., Maranian, Mel J., Hall, Per, Czene, Kamila, Darabi, Hatef, Li, Jingmei, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Ekici, Arif B., Doerk, Thilo, Hillemanns, Peter, Duerst, Matthias, Runnebaum, Ingo, Zhao, Hui, Depreeuw, Jeroen ... Spurdle, Amanda B. (2016). CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. Endocrine-Related Cancer, 23 (2), 77-91. doi: 10.1530/ERC-15-0386

Pelttari, Liisa M., Khan, Sofia, Vuorela, Mikko, Kiiski, Johanna I., Vilske, Sara, Nevanlinna, Viivi, Ranta, Salla, Schleutker, Johanna, Winqvist, Robert, Kallioniemi, Anne, Dörk, Thilo, Bogdanova, Natalia V., Figueroa, Jonine, Pharoah, Paul D. P., Schmidt, Marjanka K., Dunning, Alison M., García-Closas, Montserrat, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Hopper, John L., Southey, Melissa C., Rosenberg, Efraim H., Fasching, Peter A., Beckmann, Matthias W., Peto, Julian, Dos-Santos-silva, Isabel, Sawyer, Elinor J. ... Zeps, N. (2016). RAD51B in familial breast cancer. PLoS One, 11 (5) e0153788, e0153788. doi: 10.1371/journal.pone.0153788

O'Mara, Tracy A., Glubb, Dylan M., Painter, Jodie N., Cheng, Timothy, Dennis, Joe, Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Ashton, Katie, Proietto, Tony, Otton, Geoffrey, Shah, Mitul, Ahmed, Shahana, Healey, Catherine S., Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Ekici, Arif B., Hall, Per, Czene, Kamila, Darabi, Hatef, Li, Jingmei, Duerst, Matthias, Runnebaum, Ingo, Hillemanns, Peter ... Spurdle, Amanda B. (2015). Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. Endocrine-Related Cancer, 22 (5), 851-861. doi: 10.1530/ERC-15-0319

Alexander, Kimberley E., Chambers, Suzanne, Spurdle, Amanda B., Batra, Jyotsna, Lose, Felicity, O'Mara, Tracy A., Gardiner, Robert A., Aitken, Joanne F., Clements, Judith A., Kedda, Mary-Anne and Janda, Monika (2015). Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population. Quality of Life Research, 24 (9), 2183-2193. doi: 10.1007/s11136-015-0950-6

Nead, Kevin T., Sharp, Stephen J., Thompson, Deborah J., Painter, Jodie N., Savage, David B., Semple, Robert K., Barker, Adam, Perry, John R. B., Attia, John, Dunning, Alison M., Easton, Douglas F., Holliday, Elizabeth, Lotta, Luca A., O'Mara, Tracy, McEvoy, Mark, Pharoah, Paul D. P., Scott, Rodney J., Spurdle, Amanda B., Langenberg, Claudia, Wareham, Nicholas J. and Scott, Robert A. (2015). Evidence of a Causal Association between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis. Journal of the National Cancer Institute, 107 (9) djv178, 1-7. doi: 10.1093/jnci/djv178

Al Olama, Ali Amin, Benlloch, Sara, Antoniou, Antonis C., Giles, Graham G., Severi, Gianluca, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Muir, Kenneth, Schleutker, Johanna, Henderson, Brian E., Haiman, Christopher A., Schumacher, Fredrick R., Pashayan, Nora, Pharoah, Paul D. P., Ostrander, Elaine A., Stanford, Janet L., Batra, Jyotsna, Clements, Judith A., Chambers, Suzanne K., Weischer, Maren, Nordestgaard, Borge G., Ingles, Sue A., Sorensen, Karina D., Orntoft, Torben F., Park, Jong Y., Cybulski, Cezary, Maier, Christiane, Doerk, Thilo ... Easton, Douglas F. (2015). Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci. Cancer Epidemiology Biomarkers and Prevention, 24 (7), 1121-1129. doi: 10.1158/1055-9965.EPI-14-0317

Blanco I., Kuchenbaecker K., Cuadras D., Wang X., Barrowdale D., De Garibay G.R., Librado P., Sanchez-Gracia A., Rozas J., Bonifaci N., McGuffog L., Pankratz V.S., Islam A., Mateo F., Berenguer A., Petit A., Catala I., Brunet J., Feliubadalo L., Tornero E., Benitez J., Osorio A., Teresa R., Teresa C., Nevanlinna H., Aittomaki K., Arun B.K., Toland A.E., Karlan B.Y. ... Pujana M.A. (2015). Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS ONE, 10 (4), 1-18. doi: 10.1371/journal.pone.0120020

Stegeman, Shane, Moya, Leire, Selth, Luke A., Spurdle, Amanda B., Clements, Judith A. and Batra, Jyotsna (2015). A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancer. Endocrine-Related Cancer, 22 (2), 265-276. doi: 10.1530/ERC-15-0013

Beesley, Vanessa L., Rowlands, Ingrid J., Hayes, Sandi C., Janda, Monika, O'Rourke, Peter, Marquart, Louise, Quinn, Michael A., Spurdle, Amanda B., Obermair, Andreas, Brand, Alison, Oehler, Martin K., Leung, Yee, McQuire, Lesley and Webb, Penelope M. (2015). Incidence, risk factors, and estimates of a woman's risk for developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer. Obstetrical and Gynecological Survey, 70 (3), 176-177. doi: 10.1097/OGX.0000000000000167

Painter J.N., O'Mara T.A., Batra J., Cheng T., Lose F.A., Dennis J., Michailidou K., Tyrer J.P., Ahmed S., Ferguson K., Healey C.S., Kaufmann S., Hillman K.M., Walpole C., Moya L., Pollock P., Jones A., Howarth K., Martin L., Gorman M., Hodgson S., De Polanco M.M.E., Sans M., Carracedo A., Castellvi-Bel S., Rojas-Martinez A., Santos E., Teixeira M.R., Carvajal-Carmona L. ... Spurdle A.B. (2015). Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Human Molecular Genetics, 24 (5), 1478-1492. doi: 10.1093/hmg/ddu552

Yang, H. P., Cook, L. S., Weiderpass, E., Adami, H. -O., Anderson, K. E., Cai, H., Cerhan, J. R., Clendenen, T. V., Felix, A. S., Friedenreich, C. M., Garcia-Closas, M., Goodman, M. T., Liang, X., Lissowska, J., Lu, L., Magliocco, A. M., McCann, S. E., Moysich, K. B., Olson, S. H., Petruzella, S., Pike, M. C., Polidoro, S., Ricceri, F., Risch, H. A., Sacerdote, C., Setiawan, V. W., Shu, X. O., Spurdle, A. B., Trabert, B. ... Brinton, L. A. (2015). Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2). British Journal of Cancer, 112 (5), 925-933. doi: 10.1038/bjc.2015.24

Jhuraney, Ankita, Velkova, Aneliya, Johnson, Randall C., Kessing, Bailey, Carvalho, Renato S., Whiley, Phillip, Spurdle, Amanda B., Vreeswijk, Maaike P. G., Caputo, Sandrine M., Millot, Gael A., Vega, Ana, Coquelle, Nicolas, Galli, Alvaro, Eccles, Diana, Blok, Marinus J., Pal, Tuya, van der Luijt, Rob B., Pena, Marta Santamarina, Neuhausen, Susan L., Donenberg, Talia, Machackova, Eva, Thomas, Simon, Vallee, Maxime, Couch, Fergus J., Tavtigian, Sean V., Glover, J. N. Mark, Carvalho, Marcelo A., Brody, Lawrence C., Sharan, Shyam K. and Monteiro, Alvaro N. (2015). BRCA1 Circos: A visualisation resource for functional analysis of missense variants. Journal of Medical Genetics, 52 (4), 224-230. doi: 10.1136/jmedgenet-2014-102766

Beesley, Vanessa L., Rowlands, Ingrid J., Hayes, Sandi C., Janda, Monika, O'Rourke, Peter, Marquart, Louise, Quinn, Michael A., Spurdle, Amanda B., Obermair, Andreas, Brand, Alison, Oehler, Martin K., Leung, Yee, McQuire, Lesley, Webb, Penelope M. and On behalf of the Australian National Endometrial Cancer Study Group (2015). Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer. Gynecologic Oncology, 136 (1), 87-93. doi: 10.1016/j.ygyno.2014.11.006

Peterlongo P., Chang-Claude J., Moysich K.B., Rudolph A., Schmutzler R.K., Simard J., Soucy P., Eeles R.A., Easton D.F., Hamann U., Wilkening S., Chen B., Rookus M.A., Schmidt M.K., Van Der Baan F.H., Spurdle A.B., Walker L.C., Lose F., Maia A.-T., Montagna M., Matricardi L., Lubinski J., Jakubowska A., Garcia E.B.G., Olopade O.I., Nussbaum R.L., Nathanson K.L., Domchek S.M., Rebbeck T.R. ... Friedman E. (2015). Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers. Cancer Epidemiology Biomarkers and Prevention, 24 (1), 308-316. doi: 10.1158/1055-9965.EPI-14-0532

Lu, Yi, Ek, Weronica E., Whiteman, David, Vaughan, Thomas L., Spurdle, Amanda B., Easton, Douglas F., Pharoah, Paul D., Thompson, Deborah J., Dunning, Alison M., Hayward, Nicholas K., Chenevix-Trench, Georgia and Macgregor, Stuart (2014). Most common 'sporadic' cancers have a significant germline genetic component. Human Molecular Genetics, 23 (22), 6112-6118. doi: 10.1093/hmg/ddu312

Moir-Meyer, Gemma L., Pearson, John F., Lose, Felicity, Scott, Rodney J., McEvoy, Mark, Attia, John, Holliday, Elizabeth G., Pharoah, Paul D., Dunning, Alison M., Thompson, Deborah J., Easton, Douglas F., Spurdle, Amanda B. and Walker, Logan C. (2014). Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition. Human Genetics, 134 (3), 269-278. doi: 10.1007/s00439-014-1507-4

Buchanan, Daniel D., Rosty, Christophe, Clendenning, Mark, Spurdle, Amanda B. and Win, Aung Ko (2014). Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome). Application of Clinical Genetics, 7, 183-193. doi: 10.2147/TACG.S48625

Thompson, B. A., Martins, A. and Spurdle, A. (2014). A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays. Clinical Genetics, 87 (2), 100-108. doi: 10.1111/cge.12450

Whiley, Phillip J., Parsons, Michael T., Leary, Jennifer, Tucker, Kathy, Warwick, Linda, Dopita, Belinda, Thorne, Heather, Lakhani, Sunil R., Goldgar, David E., Brown, Melissa A. and Spurdle, Amanda B. (2014). Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. PloS One, 9 (1) e86836, 1-10. doi: 10.1371/journal.pone.0086836

Metcalf, Alexander M. and Spurdle, Amanda B. (2014). Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: A literature review. Familial Cancer, 13 (1), 1-12. doi: 10.1007/s10689-013-9671-6

Schoeps A., Rudolph A., Seibold P., Dunning A.M., Milne R.L., Bojesen S.E., Swerdlow A., Andrulis I., Brenner H., Behrens S., Orr N., Jones M., Ashworth A., Li J., Cramp H., Connley D., Czene K., Darabi H., Chanock S.J., Lissowska J., Figueroa J.D., Knight J., Glendon G., Mulligan A.M., Dumont M., Severi G., Baglietto L., Olson J., Vachon C. ... Chang-Claude J. (2014). Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions. Genetic Epidemiology, 38 (1), 84-93. doi: 10.1002/gepi.21771

Tan, Yen Y., Spurdle, Amanda B. and Obermair, Andreas (2014). Knowledge, attitudes and referral patterns of lynch syndrome: a survey of clinicians in Australia. Journal of Personalized Medicine, 4 (2), 218-244. doi: 10.3390/jpm4020218

Brennan, Donal J., Hackethal, Andreas, Metcalf, Alex M., Coward, Jermaine, Ferguson, Kaltin, Oehler, Martin K., Quinn, Michael A., Janda, Monika, Leung, Yee, Freemantle, Michael, Webb, Penelope M., Spurdle, Amanda B., Obermair, Andreas, ANECS Group, Spurdle, A. B., Webb, P. M. and Young, J. (2014). Serum HE4 as a prognostic marker in endometrial cancer: a population based study. Gynecologic Oncology, 132 (1), 159-165. doi: 10.1016/j.ygyno.2013.10.036

Walker, Logan C., Whiley, Phillip J., Houdayer, Claude, Hansen, Thomas V. O., Vega, Ana, Santamarina, Marta, Blanco, Ana, Fachal, Laura, Southey, Melissa C., Lafferty, Alan, Colombo, Mara, De Vecchi, Giovanna, Radice, Paolo and Spurdle, Amanda B. (2013). Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines. Human Mutation, 34 (10), 1424-1431. doi: 10.1002/humu.22388

Nagle, C. M., Marquart, L., Bain, C. J., O'Brien, S., Lahmann, P. H., Quinn, M., Oehler, M. K., Obermair, A., Spurdle, A. B. and Webb, P. M. (2013). Impact of weight change and weight cycling on risk of different subtypes of endometrial cancer. European Journal of Cancer, 49 (12), 2717-2726. doi: 10.1016/j.ejca.2013.03.015

Setiawan V.W., Yang H.P., Pike M.C., McCann S.E., Yu H., Xiang Y.B., Wolk A., Wentzensen N., Weiss N.S., Webb P.M., van den Brandt P.A., van de Vijver K., Thompson P.J., Australian National Endometrial Cancer Study Group, Strom B.L., Spurdle A.B., Soslow R.A., Shu X.O., Schairer C., Sacerdote C., Rohan T.E., Robien K., Risch H.A., Ricceri F., Rebbeck T.R., Rastogi R., Prescott J., Polidoro S., Park Y. ... Horn-Ross P.L. (2013). Type I and II endometrial cancers: have they different risk factors?. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 31 (20), 2607-2618. doi: 10.1200/JCO.2012.48.2596

Lose, Felicity, Batra, Jyotsna, O'Mara, Tracy, Fahey, Paul, Marquart, Louise, Eeeles, Ros A., Easton, Douglas F., Olama, Ali Amin Al, Kote-Jarai, Zsofia, Guy, Michelle, Muir, Kenneth, Lophatananon, Artitaya, Rahman, Aneela A., Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Chambers, Suzanne, Gardiner, Robert A., Aitken, Joanne F., Yaxley, John, Alexander, Kimberly, Clements, Judith A., Spurdle, Amanda B., Kedda, Mary-Anne and Australian Prostate Cancer BioResearch (2013). Common variation in Kallikrein genes KLK5, KLK6, KLK12, and KLK13 and risk of prostate cancer and tumor aggressiveness. Urologic Oncology: Seminars and Original Investigations, 31 (5), 635-643. doi: 10.1016/j.urolonc.2011.05.011

Tan, Yen Y., McGaughran, Julie, Ferguson, Kaltin, Walsh, Michael D., Buchanan, Daniel D., Young, Joanne P., Webb, Penelope M., Obermair, Andreas and Spurdle, Amanda B. (2013). Improving identification of lynch syndrome patients: A comparison of research data with clinical records. International Journal of Cancer, 132 (12), 2876-2883. doi: 10.1002/ijc.27978

Neill, Annette S., Nagle, Christina M., Protani, Melinda M., Obermair, Andreas, Spurdle, Amanda B. and Webb, Penelope M. (2013). Aspirin, nonsteroidal anti-inflammatory drugs, paracetamol and risk of endometrial cancer: a case-control study, systematic review and meta-analysis. International Journal of Cancer, 132 (5), 1146-1155. doi: 10.1002/ijc.27717

Nagle, Christina M., Olsen, Catherine M., Ibiebele, Torukiri I., Spurdle, Amanda B., Webb, Penelope M., The Australian National Endometrial Cancer Study Group and The Australian Ovarian Cancer Study Group (2013). Glycemic index, glycemic load and endometrial cancer risk: results from the Australian National Endometrial Cancer study and an updated systematic review and meta-analysis. European Journal of Nutrition, 52 (2), 705-715. doi: 10.1007/s00394-012-0376-7

Garcia-Dios, Diego A., Lambrechts, Diether, Coenegrachts, Lieve, Vandenput, Ingrid, Capoen, An, Webb, Penelope M., Ferguson, Kaltin, Akslen, Lars A., Claes, Bart, Vergote, Ignace, Moerman, Philippe, Van Robays, Johan, Marcickiewicz, Janusz, Salvesen, Helga B., Spurdle, Amanda B. and Amant, Frederic (2013). High-throughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinoma. Gynecologic Oncology, 128 (2), 327-334. doi: 10.1016/j.ygyno.2012.11.037

Nickels S., Truong T., Hein R., Stevens K., Buck K., Behrens S., Eilber U., Schmidt M., Haberle L., Vrieling A., Gaudet M., Figueroa J., Schoof N., Spurdle A.B., Rudolph A., Fasching P.A., Hopper J.L., Makalic E., Schmidt D.F., Southey M.C., Beckmann M.W., Ekici A.B., Fletcher O., Gibson L., dos Santos Silva I., Peto J., Humphreys M.K., Wang J., Cordina-Duverger E. ... Webb P. (2013). Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors. PLoS Genetics, 9 (3) e1003284, e1003173-1-e1003173-15. doi: 10.1371/journal.pgen.1003284

Eeles R.A., Olama A.A.A., Benlloch S., Saunders E.J., Leongamornlert D.A., Tymrakiewicz M., Ghoussaini M., Luccarini C., Dennis J., Jugurnauth-Little S., Dadaev T., Neal D.E., Hamdy F.C., Donovan J.L., Muir K., Giles G.G., Severi G., Wiklund F., Gronberg H., Haiman C.A., Schumacher F., Henderson B.E., Le Marchand L., Lindstrom S., Kraft P., Hunter D.J., Gapstur S., Chanock S.J., Berndt S.I. ... Easton D.F. (2013). Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nature Genetics, 45 (4), 385-391. doi: 10.1038/ng.2560

Delahanty, R.J., Xiang, Y.-B., Spurdle, A., Beeghly-Fadiel, A., Long, J., Thompson, D., Tomlinson, I., Yu, H., Lambrechts, D., Dork, T., Goodman, M.T., Zheng, Y., Salvesen, H.B., Bao, P.-P., Amant, F., Beckmann, M.W., Coenegrachts, L., Coosemans, A., Dubrowinskaja, N., Dunning, A., Runnebaum, I.B., Easton, D., Ekici, A.B., Fasching, P.A., Halle, M.K., Hein, A., Howarth, K., Gorman, M., Kaydarova, D. ... Shu, X.-O. (2013). Polymorphisms in inflammation pathway genes and endometrial cancer risk. Cancer Epidemiology Biomarkers and Prevention, 22 (2), 216-223. doi: 10.1158/1055-9965.EPI-12-0903

Thompson, B.A., Greenblatt, M.S., Vallee, M.P., Herkert, J.C., Tessereau, C., Young, E.L., Adzhubey, I.A., Li, B., Bell, R., Feng, B., Mooney, S.D., Radivojac, P., Sunyaev, S.R., Frebourg, T., Hofstra, R.M., Sijmons, R.H., Boucher, K., Thomas, A., Goldgar, D.E., Spurdle, A.B. and Tavtigian, S.V. (2013). Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Human Mutation, 34 (1), 255-265. doi: 10.1002/humu.22214

Parsons, Michael T., Whiley, Phillip J., Beesley, Jonathan, Drost, Mark, de Wind, Neils, Thompson, Bryony A., Marquart, Lousie, Hopper, John L., Jenkins, Mark A., Brown, Melissa A., Tucker, Kathy, Warwick, Linda, Buchanan, Daniel D., Spurdle, Amanda B. and Australasian Colorectal Cancer Family Registry (2013). Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. Molecular Carcinogenesis, 54 (7), 513-522. doi: 10.1002/mc.22116

Stevens, K.N., Wang, X., Fredericksen, Z., Pankratz, V.S., Greene, M.H., Andrulis, I.L., Thomassen, M., Caligo, M., Nathanson, K.L., Jakubowska, A., Osorio, A., Hamann, U., Godwin, A.K., Stoppa-Lyonnet, D., Southey, M., Buys, S.S., Singer, C.F., Hansen, T.V.O., Arason, A., Offit, K., Piedmonte, M., Montagna, M., Imyanitov, E., Tihomirova, L., Sucheston, L., Beattie, M., Neuhausen, S.L., Szabo, C.I., Simard, J. ... Couch, F.J. (2012). Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers. Breast Cancer Research and Treatment, 136 (1), 295-302. doi: 10.1007/s10549-012-2255-6

Lose, Felicity, Srinivasan, Srilakshmi, O'Mara, Tracy, Marquart, Louise, Chambers, Suzanne, Gardiner, Robert A., Aitken, Joanne F., Spurdle, Amanda B., Batra, Jyotsna, Clements, Judith A., the Australian Prostate Cancer BioResource and Samaratunga, Hema (2012). Genetic Association of the KLK4 Locus with Risk of Prostate Cancer. PLoS One, 7 (9) e44520, e44520-1-e44520-14. doi: 10.1371/journal.pone.0044520

Walker, Logan C., Krause, Lutz, kConFab Investigators, Spurdle, Amanda B. and Waddell, Nic (2012). Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours. Breast Cancer Research and Treatment, 134 (3), 1005-1011. doi: 10.1007/s10549-012-2024-6

Li, Yuqing, Low, Hui-Qi, Foo, Jia Nee, Darabi, Hatef, Einarsdottir, Kristjana, Humphreys, Keith, Spurdle, Amanda, Easton, Douglas F., Thompson, Deborah J., Dunning, Alison M., Pharoah, Paul D. P., Czene, Kamila, Chia, Kee Seng, Hall, Per and Liu, Jianjun (2012). Genetic Variants in ER Cofactor Genes and Endometrial Cancer Risk. Plos One, 7 (8), e42445-1-e42445-7. doi: 10.1371/journal.pone.0042445

Spurdle, Amanda B., Whiley, Phillip J., Thompson, Bryony, Feng, Bingjian, Healey, Sue, Brown, Melissa A., Pettigrew, Christopher, kConFab, Van Asperen, Christi J., Ausems, Margreet G. E. M., Kattentidt-Mouravieva, Anna A., Pigg, Maritta H., Schmutzler, Rita K., Engel, Christoph, Meindl, Alfons, German Consortium of Hereditary Breast and Ovarian Cancer, Caputo, Sandrine, Sinilnikova, Olga M., Lidereau, Rosette, French COVAR group collaborators, Couch, Fergus J., Guidugli, Lucia, van Overeem Hansen, Thomas, Thomassen, Mads, Eccles, Diana M., Tucker, Kathy, Benitez, Javier, Domchek, Susan M., Toland, Amanda E. ... ENIGMA Consortium (2012). BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. Journal of Medical Genetics, 49 (8), 525-532. doi: 10.1136/jmedgenet-2012-101037

Ding, Yuan C., McGuffog, Lesley, Healey, Sue, Friedman, Eitan, Laitman, Yael, Shani-Paluch-Shimon, Kaufman, Bella, Liljegren, Annelie, Lindblom, Annika, Olsson, Hakan, Kristoffersson, Ulf, Stenmark-Askmalm, Marie, Melin, Beatrice, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Huzarski, Tomasz, Cybulski, Cezary, Byrski, Tomasz, Osorio, Ana, Ramony Cajal, Teresa, Stavropoulou, Alexandra V., Benitez, Javier, Hamann, Ute ... Neuhausen, Susan L. (2012). A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers. Cancer Epidemiology Biomarkers & Prevention, 21 (8), 1362-1370. doi: 10.1158/1055-9965.EPI-12-0229

Long, Jirong, Zheng, Wei, Xiang, Yong-Bing, Lose, Felicity, Thompson, Deborah, Tomlinson, Ian, Yu, Herbert, Wentzensen, Nicolas, Lambrechts, Diether, Dork, Thilo, Dubrowinskaja, Natalia, Goodman, Marc T., Salvesen, Helga B., Fasching, Peter A., Scott, Rodney J., Delahanty, Ryan, Zheng, Ying, O'Mara, Tracy, Healey, Catherine S., Hodgson, Shirley, Risch, Harvey, Yang, Hannah P., Amant, Frederic, Turmanov, Nurzhan, Schwake, Anita, Lurie, Galina, Trovik, Jone, Beckmann, Matthias W., Ashton, Katie ... Shu, Xiao-Ou (2012). Genome-wide association study identifies a possible susceptibility locus for endometrial cancer. Cancer Epidemiology Biomarkers and Prevention, 21 (6), 980-987. doi: 10.1158/1055-9965.EPI-11-1160

Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schuermann, Peter, Karstens, Johann H., Hillemanns, Peter, Couch, Fergus J., Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W. R., Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute ... Wyld, David (2012). Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. Plos One, 7 (6) ARTN e35706, e35706-1-e35706-10. doi: 10.1371/journal.pone.0035706

Lose, Felicity, Lawrence, Mitchell G., Srinivasan, Srilakshmi, O'Mara, Tracy, Marquart, Louise, Chambers, Suzanne, Gardiner, Robert A., Aitken, Joanne F., Spurdle, Amanda B., Batra, Jyotsna, Clements, Judith A. and Australian Prostate Canc BioResour (2012). The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressiveness. Biological Chemistry, 393 (5), 403-412. doi: 10.1515/hsz-2011-0268

Couch, Fergus J., Gaudet, Mia M., Antoniou, Antonis C., Ramus, Susan J., Kuchenbaecker, Karoline B., Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, Wang, Xianshu, Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Healey, Sue, Sinilnikova, Olga M., Andrulis, Irene L., Ozcelik, Hilmi, Mulligan, Anna Marie, Thomassen, Mads, Gerdes, Anne-Marie, Jensen, Uffe Birk, Skytte, Anne-Bine, Kruse, Torben A., Caligo, Maria A., von Wachenfeldt, Anna, Barbany-Bustinza, Gisela, Loman, Niklas, Soller, Maria, Ehrencrona, Hans ... Simard, Jacques (2012). Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. Cancer Epidemiology Biomarkers & Prevention, 21 (4), 645-657. doi: 10.1158/1055-9965.EPI-11-0888

Thomassen, Mads, Blanco, Ana, Montagna, Marco, Hansen, Thomas V. O., Pedersen, Inge S., Gutierrez-Enriquez, Sara, Menendez, Mireia, Fachal, Laura, Santamarina, Marta, Steffensen, Ane Y., Jønson, Lars, Agata, Simona, Whiley, Phillip, Tognazzo, Silvia, Tornero, Eva, Jensen, Uffe B., Balmana, Judith, Kruse, Torben A., Goldgar, David E., Lazaro, Conxi, Diez, Orland, Spurdle, Amanda B. and Vega, Ana (2012). Characterization of BRCA1 and BRCA2 splicing variants: A collaborative report by ENIGMA consortium members. Breast Cancer Research and Treatment, 132 (3), 1009-1023. doi: 10.1007/s10549-011-1674-0

Neill, Annette S., Nagle, Christina M., Spurdle, Amanda B. and Webb, Penelope M. (2012). Use of talcum powder and endometrial cancer risk. Cancer Causes and Control, 23 (3), 513-519. doi: 10.1007/s10552-011-9894-5

Parsons, Michael T., Buchanan, Daniel D., Thompson, Bryony, Young, Joanne P. and Spurdle, Amanda B. (2012). Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification. Journal of Medical Genetics, 49 (3), 151-157. doi: 10.1136/jmedgenet-2011-100714

Mavaddat, Nasim, Barrowdale, Daniel, Andrulis, Irene L., Domchek, Susan M., Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J., Spurdle, Amanda, Robson, Mark, Sherman, Mark, Mulligan, Anna Marie, Couch, Fergus J., Engel, Christoph, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M., Southey, Melissa C., Terry, Mary Beth, Goldgar, David, O'Malley, Frances, John, Esther M., Janavicius, Ramunas, Tihomirova, Laima, Hansen, Thomas V.O., Nielsen, Finn C., Osorio, Anna, Stavropoulou, Alexandra, Benitez, Javier, Manoukian, Siranoush ... Antoniou, Antonis C. (2012). Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiology Biomarkers and Prevention, 21 (1), 134-147. doi: 10.1158/1055-9965.EPI-11-0775

Spurdle, Amanda B., Healey, Sue, Devereau, Andrew, Hogervorst, Frans B. L., Monteiro, Alvaro N. A., Nathanson, Katherine L., Radice, Paolo, Stoppa-Lyonnet, Dominique, Tavtigian, Sean, Wappenschmidt, Barbara, Couch, Fergus J., Goldgar, David E. and on behalf of ENIGMA (2012). ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Human Mutation, 33 (1), 2-7. doi: 10.1002/humu.21628

Johnatty, S. E., Beesley, J., Paul, J., Fereday, S., Spurdle, A. B. and Webb, P. M. (2012). Correction: ABCB1 (MDR1) polymorphisms and progression-free survival among women with ovarian cancer following paclitaxel/carboplatin chemotherapy. Clinical Cancer Research, 18 (1), 319-320. doi: 10.1158/1078-0432.CCR-11-2827

Batra, Jyotsna, Lose, Felicity, Chambers, Suzanne, Gardiner, Robert A., Aitken, Joanne, Yaxley, John, Clements, Judith A. and Spurdle, Amanda B. (2011). A replication study examining novel common single nucleotide polymorphisms identified through a prostate cancer genome-wide association study in a Japanese population. American Journal of Epidemiology, 174 (12), 1391-1395. doi: 10.1093/aje/kwr271

Rowlands, Ingrid J., Nagle, Christina M., Spurdle, Amanda B. and Webb, Penelope M. (2011). Gynecological conditions and the risk of endometrial cancer. Gynecologic Oncology, 123 (3), 537-541. doi: 10.1016/j.ygyno.2011.08.022

Figueroa, Jonine D., Garcia-Closas, Montserrat, Humphreys, Manjeet, Platte, Radka, Hopper, John L., Southey, Melissa C., Apicella, Carmel, Hammet, Fleur, Schmidt, Marjanka K., Broeks, Annegien, Tollenaar, Rob A. E. M., Van't Veer, Laura J., Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Strick, Reiner, Peto, Julian, Silva, Isabel dos Santos, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Burwinkel, Barbara, Marme, Federik, Schneeweiss, Andreas, Sohn, Christof, Bojesen, Stig, Flyger, Henrik ... Spurdle, Amanda B. (2011). Associations of common variants at 1p11.2 and 14q24.1 (RAD51l1) with breast cancer risk and heterogeneity by tumor subtype: Findings from the Breast Cancer Association Consortium. Human Molecular Genetics, 20 (23), 4693-4706. doi: 10.1093/hmg/ddr368

Batra, Jyotsna, Lose, Felicity, O'Mara, Tracy, Marquart, Louise, Stephens, Carson, Alexander, Kimberly, Srinivasan, Srilakshmi, Eeles, Rosalind A., Easton, Douglas F., Olama, Ali Amin Al, Kote-Jarai, Zsofia, Guy, Michelle, Muir, Kenneth, Lophatananon, Artitaya, Rahman, Aneela A, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Chambers, Suzanne, Gardiner, Robert A., Aitken, Joanne, Yaxley, John, Kedda, Mary-Anne, Clements, Judith A. and Spurdle, Amanda B. (2011). Association between prostinogen (KLK15) genetic variants and prostate cancer risk and aggressiveness in australia and a meta-analysis of GWAS data. PLoS One, 6 (11) e26527, e26527-1-e26527-8. doi: 10.1371/journal.pone.0026527

Lindor, Noralane M., Petersen, Gloria M., Spurdle, Amanda B., Thompson, Bryony, Goldgar, David E. and Thibodeau, Stephen N. (2011). Pancreatic Cancer and a Novel MSH2 Germline Alteration. Pancreas, 40 (7), 1138-1140. doi: 10.1097/MPA.0b013e318220c217

O'Mara, Tracy A., Nagle, Christina M., Batra, Jyotsna, Kedda, Mary-Anne, Clements, Judith A. and Spurdle, Amanda B. (2011). Kallikrein-Related Peptidase 3 (KLK3/PSA) Single Nucleotide Polymorphisms and Ovarian Cancer Survival. Twin Research and Human Genetics, 14 (4), 323-327. doi: 10.1375/twin.14.4.323

Broeks, Annegien, Schmidt, Marjanka K., Sherman, Mark E., Couch, Fergus J., Hopper, John L., Dite, Gillian S., Apicella, Carmel, Smith, Letitia D., Hammet, Fleur, Southey, Melissa C., Van 't Veer, Laura J., de Groot, Renate, Smit, Vincent T. H. B. M., Fasching, Peter A., Beckmann, Matthias W., Jud, Sebastian, Ekici, Arif B., Hartmann, Arndt, Hein, Alexander, Schulz-Wendtland, Ruediger, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sinn, Hans-Peter, Sohn, Christof, Tchatchou, Sandrine, Bojesen, Stig E., Nordestgaard, Borge G., Flyger, Henrik ... Garcia-Closas, Montserrat (2011). Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: Findings from the Breast Cancer Association Consortium. Human Molecular Genetics, 20 (16), 3289-3303. doi: 10.1093/hmg/ddr228

O'Mara, Tracy A., Ferguson, Kaltin, Fahey, Paul, Marquart, Louise, Yang, Hannah P., Lissowska, Jolanta, Chanock, Stephen, Garcia-Closas, Montserrat, Thompson, Deborah J., Healey, Catherine S., Dunning, Alison M., Easton, Douglas F., ANECS, Webb, Penelope M., Spurdle, Amanda B. and Obermair, Andreas (2011). CHEK2, MGMT, SULT1E1 and SULT1A1 polymorphisms and endometrial cancer risk. Twin Research and Human Genetics, 14 (4), 328-332. doi: 10.1375/twin.14.4.328

Goldgar, David E., Healey, Sue, Dowty, James G., Da Silva, Leonard, Chen, Xiaoqing, Spurdle, Amanda B., Terry, Mary B., Daly, Mary J., Buys, Saundra M., Southey, Melissa C., Andrulis, Irene, John, Esther M., Breast Cancer Family Registry, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Khanna, Kum K., Hopper, John L., Oefner, Peter J., Lakhani, Sunil and Chenevix-Trench, Georgia (2011). Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Research, 13 (4) R73, R73-1-R73-9. doi: 10.1186/bcr2919

Kote-Jarai, Z., Al Olama, A.A., Leongamornlert, D., Tymrakiewicz, M., Saunders, E., Guy, M., Giles, G.G., Severi, G., Southey, M., Hopper, J.L., Sit, K.C., Harris, J.M., Batra, J., Spurdle, A.B., Clements, J.A., Hamdy, F., Neal, D., Donovan, J., Muir, K., Pharoah, P.D.P., Chanock, S.J., Brown, N., Benlloch, S., Castro, E., Mahmud, N., O'Brien, L., Hall, A., Sawyer, E., Wilkinson, R. ... Eeles, R.A. (2011). Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript. Human Genetics, 129 (6), 687-694. doi: 10.1007/s00439-011-0981-1

Clendenning, Mark, Buchanan, Daniel D., Walsh, Michael D., Nagler, Belinda, Rosty, Christophe, Thompson, Bryony, Spurdle, Amanda B., Hopper, John L., Jenkins, Mark A. and Young, Joanne P. (2011). Mutation deep within an intron of MSH2 causes Lynch syndrome. Familial Cancer, 10 (2), 297-301. doi: 10.1007/s10689-011-9427-0

Whiley, Phillip J., Guidugli, Lucia, Walker, Logan C., Healey, Sue, Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., kConFab Investigators, Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Couch, Fergus J. and Spurdle, Amanda B. (2011). Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Human Mutation, 32 (6), 678-687. doi: 10.1002/humu.21495

Spurdle, Amanda B., Marquart, Louise, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga, Wan, Fei, Chen, Xiaoqing, Beesley, Jonathan, Singer, Christian F., Dressler, Anne-Catharine, Gschwantler-Kaulich, Daphne, Blum, Joanne L., Tung, Nadine, Weitzel, Jeff, Lynch, Henry, Garber, Judy, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Conroy, Don, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Davidson, Rosemarie, Chu, Carol, Eccles, Diana ... Rebbeck, Timothy R. (2011). Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers. Cancer Epidemiology Biomarkers and Prevention, 20 (5), 1032-1038. doi: 10.1158/1055-9965.EPI-10-0909

Osorio, A., Milne, R. L., Alonso, R., Pita, G., Peterlongo, P., Teule, A., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Lasa, A., Konstantopoulou, I., Hogervorst, F. B., Verhoef, S., van Dooren, M. F., Jager, A., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Vreeswijk, M., Waisfisz, Q., Van Roozendaal, C. E., Ligtenberg, M. J., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Curzon, B., Evans, D. G. ... Benitez, J. (2011). Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2. British Journal of Cancer, 104 (8), 1356-1361. doi: 10.1038/bjc.2011.91

Batra, Jyotsna, Nagle, Christina M., O'Mara, Tracy, Higgins, Melanie, Dong, Ying, Tan, Olivia L., Lose, Felicity, Skeie, Lene Marie, Srinivasan, Srilakshmi, Bolton, Kelly L., Song, Honglin, Ramus, Susan J., Gayther, Simon A., Pharoah, Paul D. P., Kedda, Mary-Anne, Spurdle, Amanda B. and Clements, Judith A. (2011). A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival. BMC Cancer, 11 (119) 119, 1-11. doi: 10.1186/1471-2407-11-119

Duffy, David L., Antill, Yoland C., Stewart, Colin J., Young, Joanne R. and Spurdle, Amanda B. (2011). Report of Endometrial Cancer in Australian BRCA1 and BRCA2 Mutation-Positive Families. Twin Research and Human Genetics, 14 (2), 111-118. doi: 10.1375/twin.14.2.111

Kaufman, Bella, Laitman, Yael, Ziv, Elad, Hamann, Ute, Torres, Diana, Lahad, Ephrat Levy, Beeri, Rachel, Renbaum, Paul, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Toloczko-Grabarek, Aleksandra, Jaworska, Katarzyna, Durda, Katarzyna, Spurdle, Amanda B., Chenevix-Trench, Georgia, Simard, Jacques, Easton, Douglas F., Antonis, Antoniou, Szabo, Csilla and Friedman, Eitan (2011). The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research and Treatment, 126 (2), 521-527. doi: 10.1007/s10549-010-1123-5

O'Mara, Tracy A., Fahey, Paul, Ferguson, Kaltin, Marquart, Louise, Lambrechts, Diether, Despierre, Evelyn, Vergote, Ignace, Amant, Frederic, Hall, Per, Liu, Jianjun, Czene, Kamila, SASBAC, Rebbeck, Timothy R., WISE Study Group, AOCS Management Group, SEARCH, Ahmed, Shahana, Dunning, Alison M., Gregory, Catherine S., Shah, Mitul, ANECS, Webb, Penelope M. and Spurdle, Amanda B. (2011). Progesterone receptor gene variants and risk of endometrial cancer. Carcinogenesis, 32 (3), 331-335. doi: 10.1093/carcin/bgq263

Beesley, Jonathan, Johnatty, Sharon E., Chen, Xiaoqing, Spurdle, Amanda B., Peterlongo, Paolo, Barile, Monica, Pensotti, Valeria, Manoukian, Siranoush, Radice, Paolo, Australian Ovarian Cancer Study Group, Kathleen Cuningham Consortium for Research in Familial Breast Cancer and Chenevix-Trench, Georgia (2011). No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women. Breast Cancer Research and Treatment, 126 (1), 235-239. doi: 10.1007/s10549-010-1292-2

Yang, X.R., Chang-Claude, J., Goode, E.L., Couch, F.J., Nevanlinna, H., Milne, R.L., Gaudet, M., Schmidt, M.K., Broeks, A., Cox, A., Fasching, P.A., Hein, R., Spurdle, A.B., Blows, F., Driver, K., Flesch-Janys, D., Heinz, J., Sinn, P., Vrieling, A., Heikkinen, T., Aittomaki, K., Heikkila, P., Blomqvist, C., Lissowska, J., Peplonska, B., Chanock, S., Figueroa, J., Brinton, L., Hall, P. ... Garcia-Closas, M. (2011). Associations of breast cancer risk factors with tumor subtypes: A pooled analysis from the breast cancer association consortium studies. Journal of the National Cancer Institute, 103 (3), 250-263. doi: 10.1093/jnci/djq526

Ramus, Susan J., Kartsonaki, Christiana, Gayther, Simon A., Pharoah, Paul D. P., Sinilnikova, Olga M., Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Glendon, Gord ... Lakhani, Sunil (2011). Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Journal of the National Cancer Institiute, 103 (2), 105-116. doi: 10.1093/jnci/djq494

Mulligan, Anna Marie, Couch, Fergus J., Barrowdale, Daniel, Domchek, Susan M., Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J., Robson, Mark, Sherman, Mark, Spurdle, Amanda B., Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M., Janavicius, Ramunas, Hansen, Thomas V.O., Nielsen, Finn C., Ejlertsen, Bent, Osorio, Ana, Munoz-Repeto, Ivan, Duran, Mercedes, Godino, Javier, Pertesi, Maroulio, Benitez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela ... Antoniou, Antonis C. (2011). Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Research, 13 (6) R110, R110.1-R110.20. doi: 10.1186/bcr3052

Fearnley, Emily J., Marquart, Louise, Spurdle, Amanda B., Weinstein, Philip, Webb, Penelope M., The Australian Ovarian Cancer Study Group, The Australian National Endometrial Cancer Study Group and Armes, Jane (2010). Polycystic ovary syndrome increases the risk of endometrial cancer in women aged less than 50 years: An Australian case-control study. Cancer Causes and Control, 21 (12), 2303-2308. doi: 10.1007/s10552-010-9658-7

Engel, Christoph, Versmold, Beatrix, Wappenschmidt, Barbara, Simard, Jacques, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Mayes, Rebecca, Evans, D. Gareth, Eeles, Rosalind, Paterson, Joan, Brewer, Carole, McGuffog, Lesley, Antoniou, Antonis C., Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Barjhoux, Laure, Frenay, Marc, Michel, Cecile, Leroux, Dominique, Dreyfus, Helene, Toulas, Christine, Gladieff, Laurence, Uhrhammer, Nancy, Bignon, Yves-Jean, Meindl, Alfons, Arnold, Norbert ... Schmutzler, Rita K. (2010). Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers & Prevention, 19 (11), 2859-2868. doi: 10.1158/1055-9965.EPI-10-0517

Mia M. Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M. Korn, Candace Guiducci, Ayellet V. Segre, Kate McGee, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Sylvie Mazoyer, Marion Gauthier-Villars, Hagay Sobol, Michel Longy, Marc Frenay, GEMO Study Collaborators, Frans B. L. Hogervorst, Matti a. Rookus, J. Margriet Collee, Nicoline Hoogerbrugge, Kees E. P. van Roozendaal, HEBON Study Collaborators, Marion Piedmonte, Wendy Rubinstein, Stacy Nerenstone ... Lakhani, Sunil (2010). Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genetics, 6 (10), e1001183-1-e1001183-12. doi: 10.1371/journal.pgen.1001183

Fletcher, Olivia, Johnson, Nichola, Silva, Isabel dos Santos, Orr, Nick, Ashworth, Alan, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomaki, Kristiina, Blomqvist, Carl, Burwinkel, Barbara, Bartram, Claus R., Meindl, Alfons, Schmutzler, Rita K., Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W. R., Southey, Melissa C., Smith, Letitia, Spurdle, Amanda B., Hopper, John L., Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Fredericksen, Zachary, Schurmann, Peter, Waltes, Regina, Bremer Michael, Dork,Thilo ... Peto, Julian (2010). Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls. Cancer Epidemiology, Biomarkers and Prevention, 19 (9), 2143-2151. doi: 10.1158/1055-9965.EPI-10-0374

Johnatty, Sharon E., Beesley, Jonathan, Chen, Xiaoqing, Macgregor, Stuart, Duffy, David L., Spurdle, Amanda B., deFazio, Anna, Gava, Natalie, Webb, Penelope M., Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer), Rossing, Mary Anne, Doherty, Jennifer Anne, Goodman, Marc T., Lurie, Galina, Thompson, Pamela J., Wilkens, Lynne R., Ness, Roberta B., Moysich, Kirsten B., Chang-Claude, Jenny, Wang-Gohrke, Shan, Cramer, Daniel W., Terry, Kathryn L., Hankinson, Susan E., Tworoger, Shelley S., Garcia-Closas, Montserrat, Yang, Hannah, Lissowska, Jolanta, Chanock, Stephen J. ... Ovarian Cancer Association Consortium (2010). Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "Hot-Spot". PLoS Genetics, 6 (7) ARTN e1001016, e1001016-1-e1001016-10. doi: 10.1371/journal.pgen.1001016

Walker, Logan C., Whiley, Phillip J., Couch, Fergus J., Farrugia, Daniel J., Healey, Sue, Eccles, Diana M., Lin, Feng, Butler, Samantha A., Goff, Sheila A., Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A. and Spurdle, Amanda B. (2010). Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity. Human Mutation, 31 (6), E1484-E1505. doi: 10.1002/humu.21267

Whiley, Phillip J., Pettigrew, Christopher A., Brewster, Brooke L., Walker, Logan C., Spurdle, Amanda B. and Brown, Melissa A. (2010). Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. BMC Medical Genetics, 11 (1) 80, 80-1-80-5. doi: 10.1186/1471-2350-11-80

Verderio, Paolo, Pizzamiglio, Sara, Southey, Melissa C., Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Beesley, Jonathan, Australian Ovarian Cancer Study Group, kConFab, Schmutzler, Rita K., Engel, Christoph, Burwinkel, Barbara, Bugert, Peter, Ficarazzi, Filomena, Manoukian, Siranoush, Barile, Monica, Wappenschmidt, Barbara, Chenevix-Trench, Georgia, Radice, Paolo and Peterlongo, Paolo (2010). A BRCA1 promoter variant (rs11655505) and breast cancer risk. Journal of Medical Genetics, 47 (4), 268-270. doi: 10.1136/jmg.2009.073544

Walsh, MD, Buchanan, DD, Cummings, MC, Pearson, SA, Arnold, ST, Clendenning, M, Walters, R, McKeone, DM, Spurdle, AB, Hopper, JL, Jenkins, MA, Phillips, KD, Suthers, GK, George, J, Goldblatt, J, Muir, A, Tucker, K, Pelzer, E, Gattas, MR, Woodall, S, Parry, S, Macrae, FA, Haile, RW, Baron, JA, Potter, JD, Le Marchand, L, Bapat, B, Thibodeau, SN, Lindor, NM ... Young, JP (2010). Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry. Clinical Cancer Research, 16 (7), 2214-2224. doi: 10.1158/1078-0432.CCR-09-3058

Walker, LC, Thompson, BA, Waddell, N, Grimmond, SM, Spurdle, AB and KConFab Investigators (2010). Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients. PLoS Genetics, 6 (2) e1000850, e1000850-1-e1000850-9. doi: 10.1371/journal.pgen.1000850

Milne, Roger L., Gaudet, Mia M., Spurdle, Amanda B., Fasching, Peter A., Couch, Fergus J., Benitez, Javier, Arias Perez, Jose Ignacio, Zamora, M. Pilar, Malats, Nuria, dos Santos Silva, Isabel, Gibson, Lorna J., Fletcher, Olivia, Johnson, Nichola, Anton-Culver, Hoda, Ziogas, Argyrios, Figueroa, Jonine, Brinton, Louise, Sherman, Mark E., Lissowska, Jolanta, Hopper, John L., Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Sigurdson, Alice J., Linet, Martha S., Schonfeld, Sara J., Freedman, D. Michal, Mannermaa, Arto, Kosma, Veli-Matti ... Lakhani, Sunil (2010). Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study. Breast Cancer Research, 12 (6) R110, R110.1-R110.11. doi: 10.1186/bcr2797

Pettigrew, C. A., French, J. D., Saunus, J. M., Edwards, S. L., Sauer, A. V., Smart, C. E., Lundstrom, H. T., Wiesner, C., Spurdle, A. B., Rothnagel, J. A. and Brown, M. A. (2010). Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1. Breast Cancer Research and Treatment, 119 (1), 239-247. doi: 10.1007/s10549-008-0256-2

G Chenevix-Trench and Spurdle, Amanda B. (2009). Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). British Journal of Cancer Management, 101 (12), 2048-2054. doi: 10.1038/sj.bjc.6605416

Eeles, R. A., Kote-Jarai, Z., Al Olama, A. A., Giles, G. G., Guy, M., Severi, G., Muir, K., Hopper, J. L., Henderson, B. E., Haiman, C. A., Schleutker, J., Hamdy, F. C., Neal, D. E., Donovan, J. L., Stanford, J. L., Ostrander, E. A., Ingles, S. A., John, E. M., Thibodeau, S. N., Schaid, D., Park, J. Y., Spurdle, A., Clements, J., Dickinson, J. L., Maier, C., Vogel, W., Dork, T., Rebbeck, T. R., Cooney, K. A. ... Easton, D. F. (2009). Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nature Genetics, 41 (10), 1116-1121. doi: 10.1038/ng.450

Spurdle, Amanda B. and Georgia Chenevix-Trench (2009). No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Research and Treatment, 117 (2), 371-379. doi: 10.1007/s10549-008-0257-1

Spurdle, Amanda B. and G Chenevix-Trench (2009). The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. British Journal of Cancer, 101 (8), 1456-1460. doi: 10.1038/sj.bjc.6605279

Spurdle, Amanda B. and Georgia Chenevix-Trench (2009). Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 18 (22), 4442-4456. doi: 10.1093/hmg/ddp372

Spurdle, Amanda B. and Chenevix-Trench, Georgia (2009). Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers. Cancer Research, 69 (14), 5801-5810. doi: 10.1158/0008-5472.CAN-09-0625

Spurdle, Amanda B. and Georgia Chenevix-Trench (2009). Risk of Estrogen Receptor–Positive and –Negative Breast Cancer and Single–Nucleotide Polymorphism 2q35-rs13387042. National Cancer Institute. Journal, 101 (14), 1012-1018. doi: 10.1093/jnci/djp167

Johnatty, Sharon E., Beesley, Jonathan, Chen, Xiaoqing, Spurdle, Amanda B., DeFazio, Anna, Webb, Penelope M. and Chenevix-Trench, Georgia (2009). Polymorphisms in the FGF2 Gene and Risk of Serous Ovarian Cancer: Results From the Ovarian Cancer Association Consortium. Twin Research and Human Genetics, 12 (3), 269-275. doi: 10.1375/twin.12.3.269

Rebbeck, TR, Antoniou, AC, Llopis, TC, Nevanlinna, H, Aittomaki, K, Simard, J, Spurdle, A B. and Chenevix-Trench, Georgia (2009). No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. Breast Cancer Research and Treatment, 115 (1), 185-192. doi: 10.1007/s10549-008-0064-8

Chenevix-Trench, Georgia and Spurdle, Amanda B. (2009). The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case–control and family analysis. Breast Cancer Research and Treatment, 115 (1), 145-150. doi: 10.1007/s10549-008-0045-y

Spurdle, Amanda B., Deans, AJ, Duffy, David and Georgia Chenevix-Trench (2009). No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research and Treatment, 115 (2), 307-313. doi: 10.1007/s10549-008-0083-5

Arnold, Sven, Buchanan, Daniel D., Barker, Melissa, Jaskowski, Lesley, Walsh, Michael D., Birney, Genevieve, Woods, Michael O., Hopper, John L., Jenkins, Mark A., Brown, Melissa A., Tavtigian, Sean V., Goldgar, David E., Young, Joanne P. and Spurdle, Amanda B. (2009). Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Human Mutation, 30 (5), 757-770. doi: 10.1002/humu.20936

Dunning, A. M., Healey, C. S., Baynes, C., Maia, A. T., Scollen, S., Vega, A., Rodriguez, R., Barbosa-Morais, N. L., Ponder, B. A.J., Low, Y. L., Bingham, S., Haiman, C. A., Le Marchand, L., Broeks, A., Schmidt, M. K., Hopper, J., Southey, M., Beckmann, M. W., Fasching, P. A., Peto, J., Johnson, N., Bojesen, S. E., Nordestgaard, B., Milne, R. L., Benitez, J., Hamann, U., Ko, Y., Schmutzler, R. K., Burwinkel, B. ... Chenevix-Trench, G. (2009). Association of ESR1 gene tagging SNPs with breast cancer risk. Human Molecular Genetics, 18 (6), 1131-1139. doi: 10.1093/hmg/ddn429

Walker, Logan C., Waddell, Nic, Ten Haaf, Anette, kConFab Investigators, Grimmond, Sean and Spurdle, Amanda B. (2008). Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers. Breast Cancer Research and Treatment, 112 (2), 229-236. doi: 10.1007/s10549-007-9848-5

Dowty, J. G., Lose, F., Jenkins, M. A., Chang, J. H., Chen, X. Q., Beesley, J., Dite, G. S., Southey, M. C., Byrnes, G. B., Tesoriero, A., Giles, G. G., ConFab Investigators, Australian Breast Cancer Family Study, Hooper, J. L. and Spurdle, A. B. (2008). The RAD51D E233G variant and breast cancer risk: population-based and clinic based family studies of Australian women. Breast Cancer Research and Treatment, 112 (1), 35-39. doi: 10.1007/s10549-007-9832-0

Lose, Felicity, Duffy, David L., Kay, Graham F., Cuningham, Kathleen, Kedda, Mary A. and Spurdle, Amanda B. (2008). Skewed X chromosome inactivation and breast and ovarian cancer status: Evidence for X-linked modifiers of BRCA1. Journal of the National Cancer Institute, 100 (21), 1519-1529. doi: 10.1093/jnci/djn345

Walsh, Michael D., Young, Joanne, Spurdle, Amanda and Obermair, Andreas (2008). Lynch syndrome in women less than 50 years of age with endometrial cancer. Obstetrics and Gynecology, 112 (4), 943-943. doi: 10.1097/AOG.0b013e3181893013

Johnatty, Sharon E., Beesley, Jonathan, Paul, Jim, Fereday, Sian, Spurdle, Amanda B., Webb, Penelope M., Byth, Karen, Marsh, Sharon, McLeod, Howard, Harnett, Paul R., Brown, Robert, Defazio, Anna and Chenevix-Trench, Georgia (2008). ABCB1 (MDR 1) polymorphisms and progression-free survival among women with ovarian cancer following paclitaxel/carboplatin chemotherapy. Clinical Cancer Research, 14 (17), 5594-5601. doi: 10.1158/1078-0432.CCR-08-0606

Kote-Jarai, Zsofia, Easton, Douglas F., Stanford, Janet L., Ostrander, Elaine A., Schleutker, Johanna, Ingles, Sue A., Schaid, Daniel, Thibodeau, Stephen, Dork, Thilo, Neal, David, Cox, Angela, Maier, Christiane, Vogel, Walter, Guy, Michelle, Muir, Kenneth, Lophatananon, Artitaya, Kedda, Mary-Anne, Spurdle, Amanda, Steginga, Suzanne, John, Esther M., Giles, Graham, Hopper, John, Chappuis, Pierre O., Hutter, Pierre, Foulkes, William D., Hamel, Nancy, Salinas, Claudia A., Koopmeiners, Joseph S., Karyadi, Danielle M. ... Eeles, Rosalind A. (2008). Multiple novel prostate cancer predisposition loci confirmed by an international study: The PRACTICAL consortium. Cancer Epidemiology Biomarkers and Prevention, 17 (8), 2052-2061. doi: 10.1158/1055-9965.EPI-08-0317

Pettigrew, Christopher A., Wayte, Nicola, Wronski, Ania, Lovelock, Paul K., Spurdle, Amanda B. and Brown, Melissa A. (2008). Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants. Breast Cancer Research and Treatment, 110 (2), 227-234. doi: 10.1007/s10549-007-9714-5

Waddell, N, Ten Haaf, A, Marsh, A, Johnson, J, Walker, LC, Gongora, M, Brown, M, Grover, P, Girolami, M, Grimmond, S, Chenevix-Trench, G, Spurdle, AB and kConFab Investigators (2008). BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. PLoS Genetics, 4 (5) e1000080, Article Number: e1000080. doi: 10.1371/journal.pgen.1000080

Frank, Bernd, Wiestler, Miriam, Kropp, Silke, Hemminki, Kari, Spurdle, Amanda B., Sutter, Christian, Wappenschmidt, Barbara, Chen, Xiaoqing, Beesley, Jonathan, Hopper, John L., Meindl, Alfons, Kiechle, Marion, Slanger, Tracy, Bugert, Peter, Schmutzler, Rita K., Bartram, Claus R., Flesch-Janys, Dieter, Mutschelknauss, Elke, Ashton, Katie, Salazar, Ramona, Webb, Emily, Hamann, Ute, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Bruening, Thomas, Silva, Isabel dos Santos, Johnson, Nichola, Pharoah, Paul P. D. ... Burwinkel, Barbara (2008). Association of a common AKAP9 variant with breast cancer risk: A collaborative analysis. Journal of the National Cancer Institute, 100 (6), 437-442. doi: 10.1093/jnci/djn037

Walsh, M. D., Cummings, M. C., Buchanan, D. D., Dambacher, W. M., Arnold, S., McKeone, D., Byrnes, R., Barker, M. A., Leggett, B. A., Gattas, M., Jass, J. R., Spurdle, A. B., Young, J. and Obermair, A. (2008). Molecular, pathologic, and clinical features of early-onset endometrial cancer: Identifying presumptive Lynch Syndrome patients. Clinical Cancer Research, 14 (6), 1692-1700. doi: 10.1158/1078-0432.CCR-07-1849

Spurdle, A.B., Lakhani, S.R., Healey, S., Parry, S., Da Silva, L. M., Brinkworth, R.I., Hopper, J.L., Brown, M.A., Babikyan, D., Chenevix-Trench, G., Tavtigian, S.V. and Goldgar, D.E. (2008). Clinical classification of BRCA1 and BRCA2 DNA sequence variants: The value of cytokeratin profiles and evolutionary analysis - A report from the kConFab Investigators. Journal of Clinical Oncology, 26 (10), 1657-1663. doi: 10.1200/JCO.2007.13.2779

Antoniou, Antonis C., Sinilnikova, Olga M., Simard, Jacques, Léoné, Mélanie, Dumont, Martine, Neuhausen, Susan L., Struewing, Jeffery P., Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Hughes, David J., Coupier, Isabelle, Belotti, Muriel, Lasset, Christine, Bonadona, Valérie, Bignon, Yves-Jean, Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO), Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Domchek, Susan M., Nathanson, Katherine L., Garber, Judy E., Weitzel, Jeffrey, Narod, Steven A., Tomlinson, Gail, Olopade, Olufunmilayo I., Godwin, Andrew, Isaacs, Claudine, Jakubowska, Anna ... Chenevix-Trench, Georgia (2007). RAD51 135G->C modifies breast cancer risk among BRCA2 mutation carriers: Results from a combined analysis of 19 studies. American Journal of Human Genetics, 81 (6), 1186-1200. doi: 10.1086/522611

Lovelock, Paul K., Spurdle, Amanda B., Mok, Myth T. S., Farrugia, Daniel J., Lakhani, Sunil R., Healey, Sue, Arnold, Stephen, Buchanan, Daniel, kConFab Investigators, Couch, Fergus J., Henderson, Berik R., Goldgar, David E., Tavtigian, Sean V., Chenevix-Trench, Georgia and Brown, Melissa A (2007). Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?. Breast Cancer Research, 9 (6: R82) R82, 1-13. doi: 10.1186/bcr1826

Marsh, Anna, Healey, Sue, Lewis, Aaron, Spurdle, Amanda B., Kedda, Mary Anne, Khanna, Kum Kum, Mann, Graham J., Pupo, Gulietta M., Lakhani, Sunil R. and Chenevix-Trench, Georgia (2007). Mutation analysis of five candidate genes in familial breast cancer. Breast Cancer Research & Treatment, 105 (3), 377-389. doi: 10.1007/s10549-006-9461-z

Lovelock, Paul K., Wong, Ee Ming, Sprung, Carl N., Marsh, Anna, Hobson, Karen, French, Juliet D., Southey, Melissa, kConFab Investigators, Sculley, Tom, Pandeya, Nirmala, Brown, Melissa A., Chenevix-Trench, Georgia, Spurdle, Amanda B. and McKay, Michael J. (2007). Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability. Breast Cancer Research and Treatment, 104 (3), 257-266. doi: 10.1007/s10549-006-9415-5

Lai, John, Kedda, Mary-Anne, Hinze, Kimberley, Smith, Robert L. G., Yaxley, John, Spurdle, Amanda B., Morris, C. Phillip, Harris, Jonathan and Clements, Judith A. (2007). PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibility. Carcinogenesis, 28 (5), 1032-1039. doi: 10.1093/carcin/bgl236

Pagan, Julia K., Arnold, Jeremy, Hanchard, Kim J., Kumar, Raman, Bruno, Tiziana, Jones, Mathew J.K., Richard, Derek J., Forrest, Alistair, Spurdle, Amanda, Verdin, Eric, Crossley, Merlin, Fanciulli, Maurizio, Chenevix-Trench, Georgia, Young, David B. and Khanna, Kum Kum (2007). A novel corepressor, BCoR-L1, represses transcription through an interaction with CtBP. Journal of Biological Chemistry, 282 (20), 15248-15257. doi: 10.1074/jbc.M700246200

Spurdle, Amanda B., Chang, Jiun-Horng, Byrnes, Graham B., Chen, Xiaoqing, Dite, Gillian S., McCredie, Margaret R.E., Giles, Graham G., Southey, Melissa C., Chenevix-Trench, Georgia and Hopper, John L. (2007). A systematic approach to analysing gene-gene interactions: Polymorphisms at the microsomal epoxide hydrolase EPHX and glutathione S-transferase GSTM1, GSTT1, and GSTP1 loci and breast cancer risk. Cancer Epidemiology Biomarkers & Prevention, 16 (4), 769-774. doi: 10.1158/1055-9965.EPI-06-0776

Jaskowski, Lesley A., Young, Joanne, Jackson, Leigh, Arnold, Sven, Barker, Melissa A., Walsh, Michael D., Buchanan, Daniel D., Holman, Samantha, Mensink, Kara A., Jenkins, Mark A., Hopper, John L., Thibodeau, Stephen N., Jass, Jeremy R. and Spurdle, Amanda B. (2007). Stability of BAT26 in Lynch syndrome colorectal tumours. European Journal of Human Genetics, 15 (2), 139-141. doi: 10.1038/sj.ejhg.5201740

Lose, Felicity, Arnold, Jeremy, Young, David B., Brown, Carolyn J., Mann, Graham J., Pupo, Gulietta M., Khanna, Kum Kum, Chenevix-Trench, Georgia and Spurdle, Amanda B. (2007). BCoR-L1 variation and breast cancer. Breast Cancer Research, 9 (4) R54, 1-12. doi: 10.1186/bcr1759

Lovelock P. K., Healey, S., Au, W., Sum, E, Y. M., Tesoriero, A., Wong, E. M., Hinson, S., Brinkworth, R., Bekessy, A., Diez, O., Izatt, L., Solomon, E., Jenkins, M., Renard, H., Hopper, J., Waring, P., kConFab Investigators, Tavtigian, S. V., Goldgar, D., Lindeman, G J ., Visvader, J. E., Couch, F. J., Henderson, B. R., Southey, M., Chenevix-Trench, G., Spurdle, A. B. and Brown, M. A. (2006). Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. Journal of Medical Genetics, 43 (1), 74-83. doi: 10.1136/jmg.2005.033258

Chenevix-Trench, Georgia, Healey, Sue, Lakhani, Sunil, Waring, Paul, Cummings, Margaret, Brinkworth, Ross, Deffenbaugh, Amie M., Burbidge, Lynn Anne, Pruss, Dmitry, Judkins, Thad, Scholl, Tom, Bekessy, Anna, Marsh, Anna, Lovelock, Paul, Wong, Ming, Tesoriero, Andrea, Renard, Helene, Southey, Melissa, Hopper, John L., Yannoukakos, Koulis, Brown, Melissa, kConFab Investigators, Easton, Douglas, Tavtigian, Sean V., Goldgar, David and Spurdle, Amanda B. (2006). Genetic and Histopathologic Evaluation of BRCA1 and BRCA2 DNA Sequence Variance of Unknown Clinical Significance. Cancer Research, 66 (4), 2019-2027. doi: 10.1158/0008-5472.CAN-05-3546

Lose, Felicity, Lovelock, Paul, Chenevix-Trench, Georgia, Mann, Graham J., Pupo, Gulietta M. and Spurdle, Amanda B. (2006). Variation in the RAD51 gene and familial breast cancer. Breast Cancer Research, 8 (3) R26, R26-1-R26-7. doi: 10.1186/bcr1415

Spurdle, Amanda B., Antoniou, Antonis C., Keleman, Livia, Holland, Helene, Peock, Susan, Cook, Margaret R., Smith, Paula L., Greene, Mark H., Simard, Jacques, Plourde, Marie, Southey, Melissa C., Godwin, Andrew K., Beck, Jeanne, Miron, Alexander, Daly, Mary B., Santella, Regina M., Hopper, John L., John, Esther M., Andrulis, Irene L., Durocher, Francine, Struewing, Jeffery P., Easton, Douglas F. and Chenevix-Trench, Georgia (2006). The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers and Prevention, 15 (1), 76-79. doi: 10.1158/1055-9965.EPI-05-0709

Medland, Sarah E., Duffy, David L., Spurdle, Amanda B., Wright, Margaret J., Geffen, Gina M., Montgomery, Grant W. and Martin, Nicholas G. (2005). Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females. Behavior Genetics, 35 (6), 735-744. doi: 10.1007/s10519-005-6187-3

Lewis, Aaron G., Flanagan, James, Marsh, Anna, Pupo, Gulietta M., Mann, Graham, Spurdle, Amanda B., Lindeman, Geoffrey J., Visvader, Jane E., Brown, Melissa A., Chenevix-Trench, Georgia and KConFab, Kathleen Cuningham Foundation (2005). Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Research, 7 (6) R1005, R1005-R1016. doi: 10.1186/bcr1336

Pettigrew, Christopher, Wayte, Nicola, Lovelock, Paul K., Tavtigian, Sean V, Chenevix-Trench, Georgia, Spurdle, Amanda B. and Brown, Melissa A. (2005). Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms. Breast Cancer Research, 7 (6) R929, R929-R939. doi: 10.1186/bcr1324

Kuschel, Bettina, Chenevix- Trench, Georgia, Spurdle, Amanda B., Chen, Xiaoqing, Hopper, John L., Giles, Graham G., McCredie, Margret, Chang-Claude, Jenny, Gregory, Catherine S., Day, Nick E., Easton, Douglas F., Ponder, Bruce A. J., Dunning, Alison M. and Pharoah, Paul D. P. (2005). Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk. Cancer Epidemiology, Biomarkers and Prevention, 14 (7), 1828-1831. doi: 10.1158/1055-9965.EPI-04-0807

Thompson, Deborah, Antoniou, Antonis C., Jenkins, Mark, Marsh, Anna, Chen, Xiaoqing, Wayne, Tierney, Tesoriero, Andrea, Milne, Roger, Spurdle, Amanda, Thorstenson, Yvonne, Southey, Melissa, Giles, Graham G., kConFab Investigators,, Khanna, Kum Kum, Sambrook, Joseph, Oefner, Peter, Goldgar, David, Hopper, John L., Easton, Doug and Chenevix-Trench, Georgia (2005). Two ATM variants and breast cancer risk. Human Mutation, 25 (6), 594-595. doi: 10.1002/humu.9344

Jekimovs, C. R., Chen, X., Arnold, J., Gatei, M., Richardson, D. J., kConFab Investigators, Spurdle, A. B., Khanna, K. K. and Chenevix-Trench, G. (2005). Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals. British Journal Of Cancer, 92 (4), 784-790. doi: 10.1038/sj.bjc.6602381

Chang, Jiun-Horng, Gertig, Dorota M., Chen, Xiaoqing, Dite, Gillian S., Jenkins, Mark A., Milne, Roger L., Southey, Melissa C., McCredie, Margaret R. E., Giles, Graham G., Chenevix-Trench, Georgia, Hopper, John L. and Spurdle, Amanda B. (2005). CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study. Breast Cancer Research, 7 (4) R513, R513-R521. doi: 10.1186/bcr1040

Kelemen, Livia, Spurdle, Amanda B., Purdie, David M., Gertig, Dorota and Chenevix-Trench, Georgia (2005). RAD52 Y415X truncation polymorphism and epithelial ovarian cancer risk in Australian women. Cancer Letters, 218 (2), 191-197. doi: 10.1016/j.canlet.2004.09.023

Webb, Penelope, Hopper, John L., Newman, Beth, Chen, Xiaoqing, Kelemen, Livia, Giles, Graham G., Southey, Melissa C., Chenevix-Trench, Georgia and Spurdle, Amanda B. (2005). Double-strand break repair gene polymorphisms and risk of breast or ovarian cancer. Cancer Epidemiology Biomarkers and Prevention, 14 (2), 319-323. doi: 10.1158/1055-9965.EPI-04-0335

Tesoriero, A. A., Wong, E. M., Jenkins, M. A., Hopper, J. L., KConFab, K. C. F., Brown, M. A., Chenevix-Trench, G., Spurdle, A. B. and Southey, M. C. (2005). Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families. Human Mutation, 26 (5), 495-495. doi: 10.1002/humu.9379

Auranen, Annika, Spurdle, Amanda B., Chen, Xiaoqing, Lipscombe, Julian, Purdie, David M., Hopper, John L., Green, Adele, Healey, Catherine S., Redman, Karen, Dunning, Alison M., Pharoah, Paul D., Easton, Douglas F., Ponder, Bruce A.J., Chenevix-Trench, Georgia and Novik, Karen L. (2003). BRCA2 Arg372His polymorphism and epithelial ovarian cancer risk. International Journal of Cancer, 103 (3), 427-430. doi: 10.1002/ijc.10814

Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, McCredie, Margaret R. E., Giles, Graham G., Newman, Beth and Chenevix-Trench, Georgia (2002). Prohibitin 3′ untranslated region polymorphism and breast cancer risk in Australian women. Lancet, 360 (9337), 925-926. doi: 10.1016/S0140-6736(02)11043-9

Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Dite, Gillian S., Cui, Jisheng, McCredie, Margaret R. E., Giles, Graham G., Ellis-Steinborner, Sarah, Venter, Deon J., Newman, Beth, Southey, Melissa C. and Chenevix-Trench, Georgia (2002). The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years. Cancer Epidemiology Biomarkers & Prevention, 11 (4), 413-416.

Chenevix-Trench, Georgia, Spurdle, Amanda B., Gatei, Magtouf, Kelly, Helena, Marsh, Anna, Chen, Xiaoqing, Donn, Karen, Cummings, Margaret C., Nyholt, Dale, Jenkins, Mark A., Scott, Clare, Pupo, Gulietta M., Dork, Thilo, Bendix, Regina, Kirk, Judy, Tucker, Katherine, McCredie, Margaret R. E., Hopper, John L., Sambrook, Joseph, Mann, Graham J. and Khanna, Kum Kum (2002). Dominant negative ATM mutations in breast cancer families. Journal of the National Cancer Institute, 94 (3), 205-215. doi: 10.1093/jnci/94.3.205

Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, McCredie, Margaret R. E., Giles, Graham G., Newmann, Beth, Chenevix-Trench, Georgia and Khanna, KumKum (2002). No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. Breast Cancer Research, 4 (6) R15, R15/1-R15/6. doi: 10.1186/bcr534

Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, McCredie, Margaret R. E., Giles, Graham G., Venter, Deon J., Southey, Melissa C. and Chenevix-Trench, Georgia (2002). The progesterone receptor exon 4 Va1660Leu G/T polymorphism and risk of breast cancer in Australian women. Cancer Epidemiology Biomarkers & Prevention, 11 (5), 439-443.

Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Dite, Gillian S., McCredie, Margaret R. E., Giles, Graham G., Venter, Deon J., Southey, Melissa C., Purdie, David M. and Chenevix-Trench, Georgia (2001). The steroid 5α-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women. Cancer Epidemiology, Biomarkers and Prevention, 10 (12), 1287-1293.

Spurdle, Amanda B., Webb, Penelope M., Purdie, David M., Chen, Xiaoqing, Green, Adele and Chenevix-Trench, Georgia (2001). No significant association between progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of ovarian cancer. Carcinogenesis, 22 (5), 717-721. doi: 10.1093/carcin/22.5.717

Marsh, Anna, Spurdle, Amanda B., Turner, Bruce C., Fereday, Sian, Thorne, Heather, Pupo, Gulietta M., Mann, Graham J., Hopper, John L., Sambrook, Joseph F., Chenevix-Trench, Georgia, Australian Breast Canc Family Stud and K Cunningham Fdn Consortium Res Fa (2001). The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia. Breast Cancer Research, 3 (5) 346, 346-349. doi: 10.1186/bcr319

Spurdle, Amanda B., Webb, Penelope M., Purdie, David M., Chen, Xiaoqing, Green, Adele and Chenevix-Trench, Georgia (2001). Polymorphisms at the glutathione S-transferase GSTM1, GSTT1 and GSTP1 loci: risk of ovarian cancer by histological subtype. Carcinogenesis, 22 (1), 67-72. doi: 10.1093/carcin/22.1.67

Spurdle, Amanda B., Purdie, David M., Webb, Penelope M., Chen, Xiaoqing, Green, Adele and Chenevix-Trench, Georgia (2001). The microsomal epoxide hydrolase Tyr113His polymorphism: Association with risk of ovarian cancer. Molecular Carcinogenesis, 30 (1), 71-78. doi: 10.1002/1098-2744(200101)30:1<71::AID-MC1015>3.0.CO;2-9

Spurdle, Amanda B., Hopper, John L., Dite, Gillian S, Chen, Xiaoqing, Cui, Jisheng, McCredie, Margaret R. E., Giles, Graham G., Southey, Melissa C., Venter, Deon J., Easton, Douglas F. and Chenevix-Trench, Georgia (2000). CYP17 promoter polymorphism and breast cancer in Australian women under age forty years. Journal of the National Cancer Institute, 92 (20), 1674-1681. doi: 10.1093/jnci/92.20.1674

Spurdle, Amanda B., Chen, Xiaoqing, Abbazadegan, Mohammed, Martin, Nicholas, Khoo, Soo-Keat, Hurst, Terry, Ward, Bruce, Webb, Penelope M. and Chenevix-Trench, Georgia (2000). CYP17 promotor polymorphism and ovarian cancer risk. International Journal of Cancer, 89 (2), 436-439.

Spurdle, A. B., Webb, P. M., Chen, X. D., Martin, N. G., Giles, G. G., Hopper, J. L. and Chenevix-Trench, G. (2000). Androgen receptor EXON 1 CAG repeat length and risk of ovarian cancer. International Journal of Cancer, 87 (5), 637-643. doi: 10.1002/1097-0215(20000901)87:5<637::AID-IJC3>3.0.CO;2-R

Spurdle, Amanda B., Chen, Xiaoqing, Abbazadegan, Mohammed, Martin, Nicholas, Khoo, Soo-Keat, Hurst, Terry, Ward, Bruce, Webb, Penelope M. and Chenevix-Trench, Georgia (2000). CYP17 promotor polymorphism and ovarian cancer risk. International Journal of Cancer, 86 (3), 436-439. doi: 10.1002/(SICI)1097-0215(20000501)86:3<436::AID-IJC21>3.0.CO;2-A

Spurdle, A. B., Dite, G. S., Chen, X. Q., Mayne, C. J., Southey, M. C., Batten, L. E., Chy, H., Trute, L, McCredie, M. R. E., Giles, G. G., Armes, J., Venter, D. J., Hopper, J. L. and Chenevix-Trench, G. (1999). Androgen receptor exon 1 CAG repeat length and breast cancer in women before age forty years. Journal of the National Cancer Institute, 91 (11), 961-966. doi: 10.1093/jnci/91.11.961

Loehlin, J. C., Spurdle, A. B., Treloar, S. A. and Martin, N. G. (1999). Number of X-linked androgen receptor gene CAG repeats and femininity in women.. Personality & Individual Differences, 27 (5), 887-899. doi: 10.1016/S0191-8869(99)00038-0

Chenevix-Trench, G., Healey, S. C., Lakhani, S., Brinkworth, R. I., KConFab, K. C. F., Marsh, A., Brown, M. A., Easton, D. F., Tavtigian, S., Goldgar, D. E. and Spurdle, A. B. (2005). Genetic and immunohistopathological evaluation of BRCA1 and BRCA2 unclassified variants. Familial Cancer 2005: Research and Practice, Couran Cove, Queensland, 30 August - 3 September, 2005.

Brown, M. A., Chenevix-Trench, G., French, J. D., Hobson, K., KConFab Investigators, Lovelock, P. K., Marsh, A., McKay, M., Pandeya, N., Sculley, T., Southey, M. C., Sprung, C. N., Spurdle, A. B. and Wong, E. M. (2005). Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell line phenotypic variability. Familial Cancer 2005: Research and Practice, Couran Cove, 30 August - 3 September, 2005.

Brown, M. A., Chenevix-Trench, G., Lovelock, P. K., Pettigrew, C., Spurdle, A. B., Tavtigian, S. and Wayte, N. J. (2005). Evolutionary conservation analysis may help identify functional exonic splice enhancer motifs in BRCA1 and BRCA2. Familial Cancer 2005: Research and Practice, Couran Cove, Queensland, 30 August - 3 September, 2005.

Honorary Professor Amanda Spurdle

Publications

Journal Articles

Conference Papers