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2013 Journal Article Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk FactorsNickels 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 |
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2013 Journal Article Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutionsThompson, 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 |
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2012 Journal Article Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriersStevens, 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 |
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2012 Journal Article Genetic Association of the KLK4 Locus with Risk of Prostate CancerLose, 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 |
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2012 Journal Article Age at last birth in relation to risk of endometrial cancer: pooled analysis in the epidemiology of endometrial cancer consortiumSetiawan, 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 |
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2012 Journal Article Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumoursWalker, 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 |
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2012 Journal Article Genetic Variants in ER Cofactor Genes and Endometrial Cancer RiskLi, 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 |
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2012 Journal Article A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation CarriersDing, 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 |
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2012 Journal Article BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer riskSpurdle, 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 |
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2012 Journal Article Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target siteBrewster, Brooke L., Rossiello, Francesca, French, Juliet D., Edwards, Stacey L., Wong, Ming, Wronski, Ania, Whiley, Phillip, Waddell, Nic, Chen, Xiaowei, Bove, Betsy, kConFab, Hopper, John L., John, Esther M., Andrulis, Irene, Daly, Mary, Volorio, Sara, Bernard, Loris, Peissel, Bernard, Manoukian, Siranoush, Barile, Monica, Pizzamiglio, Sara, Verderio, Paolo, Spurdle, Amanda B., Radice, Paolo, Godwin, Andrew K., Southey, Melissa C., Brown, Melissa A. and Peterlongo, Paolo (2012). Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site. Human Mutation, 33 (12), 1665-1675. doi: 10.1002/humu.22159 |
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2012 Journal Article Genome-wide association study identifies a possible susceptibility locus for endometrial cancerLong, 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 |
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2012 Journal Article Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2Kirchhoff, 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) e35706, e35706-1-e35706-10. doi: 10.1371/journal.pone.0035706 |
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2012 Journal Article The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressivenessLose, 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 |
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2012 Journal Article 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 CarriersCouch, 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 |
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2012 Journal Article Characterization of BRCA1 and BRCA2 splicing variants: A collaborative report by ENIGMA consortium membersThomassen, 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 |
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2012 Journal Article Use of talcum powder and endometrial cancer riskNeill, 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 |
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2012 Journal Article 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 classificationParsons, 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 |
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2012 Journal Article 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 genesSpurdle, 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 |
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2012 Journal Article Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)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 |
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2012 Journal Article Correction: ABCB1 (MDR1) polymorphisms and progression-free survival among women with ovarian cancer following paclitaxel/carboplatin chemotherapyJohnatty, 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 |
