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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 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 |
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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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2011 Journal Article A replication study examining novel common single nucleotide polymorphisms identified through a prostate cancer genome-wide association study in a Japanese populationBatra, 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 |
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2011 Journal Article 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 ConsortiumFigueroa, 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 |
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2011 Journal Article Breast cancer susceptibility polymorphisms and endometrial cancer risk: a collaborative endometrial cancer studyHealey, Catherine S., Ahmed, Shahana, O'Mara, Tracy A., Ferguson, Kaltin, Lambrechts, Diether, Garcia-Dios, Diego A., Vergote, Ignace, Amant, Frederic, Howarth, Kimberley, Gorman, Maggie, Hodgson, Shirley, Tomlinson, Ian, Yang, Hannah P., Lissowska, Jolanta, Brinton, Louise A., Chanock, Stephen, Garcia-Closas, Montserrat, Hall, Per, Liu, Jianjun, Shah, Mitul, Pharoah, Paul D. P., Thompson, Deborah J., Rebbeck, Timothy R., Strom, Brian L., Dunning, Alison M., Easton, Douglas F., Spurdle, Amanda B., ANECS Group and Obermair, Andreas (2011). Breast cancer susceptibility polymorphisms and endometrial cancer risk: a collaborative endometrial cancer study. Carcinogenesis, 32 (12) bgr214, 1862-1866. doi: 10.1093/carcin/bgr214 |
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2011 Journal Article Gynecological conditions and the risk of endometrial cancerRowlands, 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 |
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2011 Journal Article Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriersCox, David G., Simard, Jacques, Sinnett, Daniel, Hamdi, Yosr, Soucy, Penny, Ouimet, Manon, Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley, Healey, Sue, Szabo, Csilla, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Caligo, Maria A., Friedman, Eitan, Laitman, Yael, Kaufman, Bella, Paluch, Shani S., Borg, Ake, Karlsson, Per, Askmalm, Marie Stenmark, Bustinza, Gisela Barbany, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Benitez, Javier ... Sinilnikova, Olga M. (2011). Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Human Molecular Genetics, 20 (23), 4732-4747. doi: 10.1093/hmg/ddr388 |
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2011 Journal Article Association between prostinogen (KLK15) genetic variants and prostate cancer risk and aggressiveness in australia and a meta-analysis of GWAS dataBatra, 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 |
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2011 Journal Article Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancerMaxwell, Christopher A., Benitez, Javier, Gomez-Baldo, Laia, Osorio, Ana, Bonifaci, Nuria, Fernandez-Ramires, Ricardo, Costes, Sylvain V., Guino, Elisabet, Chen, Helen, Evans, Gareth J.R., Mohan, Pooja, Catala, Isabel, Petit, Anna, Aguilar, Helena, Villanueva, Alberto, Aytes, Alvaro, Serra-Musach, Jordi, Rennert, Gad, Lejbkowicz, Flavio, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Ripamonti, Carla B., Bonanni, Bernardo, Viel, Alessandra, Allavena, Anna, Bernard, Loris, Radice, Paolo, Friedman, Eitan ... Pujana, Miguel Angel (2011). Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer. PLoS Biology, 9 (11), 1-18. doi: 10.1371/journal.pbio.1001199 |
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2011 Journal Article Pancreatic Cancer and a Novel MSH2 Germline AlterationLindor, 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 |
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2011 Journal Article Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriersAntoniou, Antonis C., Kartsonaki, Christiana, Sinilnikova, Olga M., Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Barile, Monica, Pensotti, Valeria, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Putignano, Anna Laura, Varesco, Liliana, Radice, Paolo, Mai, Phuong L., Greene, Mark H., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Jensen, Uffe Birk ... Chenevix-Trench, Georgia (2011). Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 20 (16), 3304-3321. doi: 10.1093/hmg/ddr226 |
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2011 Journal Article Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association studyKote-Jarai, Zsofia, Al Olama, Ali Amin, Giles, Graham G, Severi, Gianluca, Schleutker, Johanna, Weischer, Maren, Campa, Daniele, Riboli, Elio, Key, Tim, Gronberg, Henrik, Hunter, David J., Kraft, Peter, Thun, Michael J, Ingles, Sue, Chanock, Stephen, Albanes, Demetrius, Hayes, Richard B,, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Pharoah, Paul, Schumacher, Fredrick, Henderson, Brian E., Stanford, Janet L., Ostrander, Elaine A., Sorensen, Karina Dalsgaard, Dork, Thilo, Andriole, Gerald, Dickinson, Joanne L ... Eeles, Rosalind A. (2011). Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. Nature Genetics, 43 (8), 785-791. doi: 10.1038/ng.882 |
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2011 Journal Article Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: Findings from the Breast Cancer Association ConsortiumBroeks, 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 |
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2011 Journal Article CHEK2, MGMT, SULT1E1 and SULT1A1 polymorphisms and endometrial cancer riskO'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 |
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2011 Journal Article Kallikrein-Related Peptidase 3 (KLK3/PSA) Single Nucleotide Polymorphisms and Ovarian Cancer SurvivalO'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 |
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2011 Journal Article Rare variants in the ATM gene and risk of breast cancerGoldgar, 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 |
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2011 Journal Article Mutation deep within an intron of MSH2 causes Lynch syndromeClendenning, 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 |
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2011 Journal Article Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcriptKote-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 |
