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2013

Journal Article

Type I and II endometrial cancers: have they different risk factors?

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

Type I and II endometrial cancers: have they different risk factors?

2013

Journal Article

Common variation in Kallikrein genes KLK5, KLK6, KLK12, and KLK13 and risk of prostate cancer and tumor aggressiveness

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

Common variation in Kallikrein genes KLK5, KLK6, KLK12, and KLK13 and risk of prostate cancer and tumor aggressiveness

2013

Journal Article

Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression

Kote-Jarai, Zsofia, Saunders, Edward J., Leongamornlert, Daniel A., Tymrakiewicz, Malgorzata, Dadaev, Tokhir, Jugurnauth-Little, Sarah, Ross-Adams, Helen, Al Olama, Ali Amin, Benlloch, Sara, Halim, Silvia, Russel, Roslin, Dunning, Alison M., Luccarini, Craig, Dennis, Joe, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Muir, Ken, Giles, Graham G., Severi, Gianluca, Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher A., Schumacher, Fredrick, Henderson, Brian E., Le Marchand, Loic, Lindstrom, Sara, Kraft, Peter, Hunter, David J. ... Eeles, Rosalind A. (2013). Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression. Human Molecular Genetics, 22 (12), 2520-2528. doi: 10.1093/hmg/ddt086

Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression

2013

Journal Article

Improving identification of lynch syndrome patients: A comparison of research data with clinical records

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

Improving identification of lynch syndrome patients: A comparison of research data with clinical records

2013

Journal Article

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Bojesen, Stig E., Pooley, Karen A., Johnatty, Sharon E., Beesley, Jonathan, Michailidou, Kyriaki, Tyrer, Jonathan P., Edwards, Stacey L., Pickett, Hilda A., Shen, Howard C., Smart, Chanel E., Hillman, Kristine M., Mai, Phuong L., Lawrenson, Kate, Stutz, Michael D., Lu, Yi, Karevan, Rod, Woods, Nicholas, Johnston, Rebecca L., French, Juliet D., Chen, Xiaoqing, Weischer, Maren, Nielsen, Sune F., Maranian, Melanie J., Ghoussaini, Maya, Ahmed, Shahana, Baynes, Caroline, Bolla, Manjeet K., Wang, Qin, Dennis, Joe ... Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) (2013). Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nature Genetics, 45 (4), 371-384. doi: 10.1038/ng.2566

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal Article

Glycemic index, glycemic load and endometrial cancer risk: results from the Australian National Endometrial Cancer study and an updated systematic review and meta-analysis

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

Glycemic index, glycemic load and endometrial cancer risk: results from the Australian National Endometrial Cancer study and an updated systematic review and meta-analysis

2013

Journal Article

Aspirin, nonsteroidal anti-inflammatory drugs, paracetamol and risk of endometrial cancer: a case-control study, systematic review and meta-analysis

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

Aspirin, nonsteroidal anti-inflammatory drugs, paracetamol and risk of endometrial cancer: a case-control study, systematic review and meta-analysis

2013

Journal Article

High-throughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinoma

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

High-throughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinoma

2013

Journal Article

A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

Al Olama, Ali Amin, Kote-Jarai, Zsofia, Schumacher, Fredrick R., Wiklund, Fredrik, Berndt, Sonja I., Benlloch, Sara, Giles, Graham G., Severi, Gianluca, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Hunter, David J., Henderson, Brian E., Thun, Michael J., Gaziano, Michael, Giovannucci, Edward L., Siddiq, Afshan, Travis, Ruth C., Cox, David G., Canzian, Federico, Riboli, Elio, Key, Timothy J., Andriole, Gerald, Albanes, Demetrius, Hayes, Richard B., Schleutker, Johanna, Auvinen, Anssi, Tammela, Teuvo L. J., Weischer, Maren ... Eeles, Rosalind A. (2013). A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. Human Molecular Genetics, 22 (2) dds425, 408-415. doi: 10.1093/hmg/dds425

A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

2013

Journal Article

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

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

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

2013

Journal Article

Polymorphisms in inflammation pathway genes and endometrial cancer risk

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

Polymorphisms in inflammation pathway genes and endometrial cancer risk

2013

Journal Article

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

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

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

2013

Journal Article

A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

Thompson, Bryony A., Goldgar, David E., Paterson, Carol, Clendenning, Mark, Walters, Rhiannon, Arnold, Sven, Parsons, Michael T., Michael, D., Gallinger, Steven, Haile, Robert W., Hopper, John L., Jenkins, Mark A., LeMarchand, Loic, Lindor, Noralane M., Newcomb, Polly A., Thibodeau, Stephen N., Colon Cancer Family Registry, Young, Joanne P., Buchanan, Daniel D., Tavtigian, Sean V. and Spurdle, Amanda B. (2013). A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry. Human Mutation, 34 (1), 200-209. doi: 10.1002/humu.22213

A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

2013

Journal Article

Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

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

Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

2013

Journal Article

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

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

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

2012

Journal Article

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

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

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

2012

Journal Article

Genetic Association of the KLK4 Locus with Risk of Prostate Cancer

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

Genetic Association of the KLK4 Locus with Risk of Prostate Cancer

2012

Journal Article

Age at last birth in relation to risk of endometrial cancer: pooled analysis in the epidemiology of endometrial cancer consortium

Setiawan, Veronica Wendy, Pike, Malcolm C., Karageorgi, Stalo, Deming, Sandra L., Anderson, Kristin, Bernstein, Leslie, Brinton, Louise A., Cai, Hui, Cerhan, James R., Cozen, Wendy, Chen, Chu, Doherty, Jennifer, Freudenheim, Jo L., Goodman, Marc T., Hankinson, Susan E., Lacey, James V., Jr., Liang, Xiaolin, Lissowska, Jolanta, Lu, Lingeng, Lurie, Galina, Mack, Thomas, Matsuno, Rayna K., McCann, Susan, Moysich, Kirsten B., Olson, Sara H., Rastogi, Radhai, Rebbeck, Timothy R., Risch, Harvey, Robien, Kim ... and the Australian National Endometrial Cancer Study Group (2012). Age at last birth in relation to risk of endometrial cancer: pooled analysis in the epidemiology of endometrial cancer consortium. American Journal of Epidemiology, 176 (4), 269-278. doi: 10.1093/aje/kws129

Age at last birth in relation to risk of endometrial cancer: pooled analysis in the epidemiology of endometrial cancer consortium

2012

Journal Article

Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours

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

Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours

2012

Journal Article

Genetic Variants in ER Cofactor Genes and Endometrial Cancer Risk

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

Genetic Variants in ER Cofactor Genes and Endometrial Cancer Risk