Citations 3
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Southey, Melissa C. , Goldgar, David E, Winqvist, Robert , Pylkäs, Katri , Michailidou, Kyriaki , Rensburg, Elizabeth J. van , Heikkinen, Tuomas , Hopper, John L. , Dörk, Thilo , Claes, Kathleen , Teo, Zhi L. , Radice, Paolo , Catucci, Irene, Peterlongo, Paolo , Odefrey, Fabrice, Dowty, James G., Schmidt, Marjanka K. , Hogervorst, Frans B.L., Verhoef, Senno, Carpenter, Jane, Clarke, Christine L. , Scott, Rodney J. , Fasching, Peter A. , Haeberle, Lothar, Ekici, Arif B. , Beckmann, Matthias W. , Peto, Julian , Fletcher, Olivia , Johnson, Nichola , Bolla, Manjeet K. , Sawyer, Elinor J. , Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Marmé, F., Burwinkel, Barbara , Guénel, Pascal , Truong, Thérèse , Sanchez, Marie, Bojesen, Stig E. , Nielsen, Sune F. , Flyger, Henrik, Benı́tez, Javier , Zamora, M. 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Ann , Chen, Zhihua , Gayther, Simon A. , Ramus, Susan J. , Menon, Usha , Wu, Anna H. , Pearce, Celeste Leigh, Pike, Malcolm C., Dansonka‐Mieszkowska, Agnieszka , Plisiecka-Hałasa, Joanna, Moes-Sosnowska, Joanna , Kupryjańczyk, Jolanta , Song, Honglin , Winship, Ingrid , Chenevix‐Trench, Georgia , Tavtigian, Sean V. , Easton, Doug , Lu, Karen H. , Durocher, Francine , Eccles, Diana , Lambrechts, Diether , Vachon, Celine, Pankratz, Vernon S, Thibodeau, Stephen, Goldgar, David E, Couch, Fergus J. , Tischkowitz, Marc D. , Foulkes, William D. , Dennis, Joe , Nevanlinna, Heli , Reis‐Filho, Jorge S. , Tsimiklis, Helen , Broeks, Annegien , dos‐Santos‐Silva, Isabel , Yang, Rongxi , Ménégaux, F. , Sanchez, Marie, Pérez, José Ignacio Arias , Anton‐Culver, Hoda , Neuhausen, Susan L. , Ziogas, Argyrios , Clarke, Christina A. , Arndt, Volker , Mannermaa, Arto, Spurdle, Amanda B. , Group, Australian Ovarian Cancer Study, Rudolph, Anja , Seibold, Petra , Olson, Janet E. , Vachon, Celine M. , Pankratz, V. 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Journal of Medical Genetics | September 5, 2016 | Volume: 53 | Issue: 12 | Pages: 800-811
Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10−5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10−8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.
Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer
Goode, Ellen L. , García‐Closas, Montserrat , Severi, Gianluca , Hein, Rebecca, Fredericksen, Zachary, Malats, Núria , Zamora, M. Pilar , Dörk, Thilo , Schürmann, Peter , Karstens, Johann H., Hillemanns, Peter , Cox, Angela , Brock, Ian W., Elliot, Graeme, Cross, Simon S. , Seal, Sheila, Turnbull, Clare , Renwick, Anthony, Rahman, Nazneen , Shen, Chen‐Yang , Yu, Jyh‐Cherng , Huang, Chiun‐Sheng , Hou, Ming‐Feng , Nordestgaard, Børge G. , Bojesen, Stig E. , Lanng, Charlotte, Alnæs, Grethe Grenaker, Kristensen, Vessela N. , Børrensen-Dale, Anne-Lise, Hopper, John L. , Dite, Gillian S. , Apicella, Carmel, Southey, Melissa C. , Lambrechts, Diether , Yesilyurt, Betül T., Floris, Giuseppe , Leunen, Karin, Sangrajrang, Suleeporn , Gaborieau, Valérie , McKay, James , Chang‐Claude, Jenny , Wang‐Gohrke, Shan , Radice, Paolo , Peterlongo, Paolo , Manoukian, Siranoush , Barile, Monica, Giles, Graham G. , Baglietto, Laura , John, Esther M. , Miron, Alexander, Lissowska, Jolanta , Sherman, Mark E., Bogdanova, Natalia , Antonenkova, Natalia, Zalutsky, Iosif V., Rogov, Yuriy , Fasching, Peter A. , Ekici, Arif B. , Beckmann, Matthias W. , Brenner, Hermann , Stegmaier, Christa, Andrulis, Irene L. , Knight, Julia A. , Glendon, Gord, Mulligan, Anna Marie , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli‐Matti , Hartikainen, Jaana M. , Meindl, Alfons , Bartram, Claus R., Schmutzler, Rita K., Thomas, Gilles D., Hoover, Robert N. , Fletcher, Olivia , Gibson, Lorna J., dos‐Santos‐Silva, Isabel , Peto, Julian, Nickels, Stefan , Flesch‐Janys, Dieter, Sawyer, Elinor J. , Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Schmidt, Marjanka K. , Veer, Laura van ‘t , Tollenaar, Rob A.�E.�M. , Dunning, Alison M. , Pooley, Karen A. , Schneeweiß, Andreas , Sohn, Christof , Burwinkel, Barbara , Jakubowska, Anna , Lubiński, Jan , Jaworska, Katarzyna, Durda, Katarzyna, Kang, Daehee , Noh, Dong‐Young , Ahn, Sei-Hyun, Hunter, David J. , Hankinson, Susan E. , Lindström, Sara, Chen, Xiaoqing, Beesley, Jonathan, Hamann, Ute, Justenhoven, Christina , Network, for the GENICA, Winqvist, Robert , Pylkäs, Katri , Jukkola‐Vuorinen, Arja , Grip, Mervi, Hooning, Maartje J. , Hollestelle, Antoinette , Oldenburg, Rogier A., Tilanus‐Linthorst, Madeleine M.A., Хуснутдинова, Э. К. , Bermisheva, Marina , Prokofieva, Darya, Farahtdinova, Albina, Humphreys, Manjeet K., Wang, Qin , Chenevix‐Trench, Georgia , Easton, Douglas F. , Lambrechts, Diether , Milne, Roger L. , Couch, Fergus J. , Pérez, José Ignacio Arias , Benı́tez, Javier , Børrensen-Dale, Anne-Lise, Brennan, Paul , Chanock, Stephen Jacob , Figueroa, Jonine D. , Bayer, Christian , Müller, Heiko , Arndt, Volker , Mannermaa, Arto, Meindl, Alfons , Heil, Joerg , Anton‐Culver, Hoda , Ziogas, Argyrios , Broeks, Annegien , Veer, Laura J. van’t , Pharoah, Paul D.P. , Marmé, Frederik , Yoo, Keun-Young , Hankinson, Susan E. , Kraft, Peter , Chen, Xiaoqing, Harth, Volker , Network, for the GENICA, Olson, Janet E. , Wang, Xianshu , Dörk, Thilo , Lambrechts, Diether , Giles, Graham G , Peterlongo, Paolo , Hillemanns, Peter , Radice, Paolo , Lissowska, Jolanta , John, Esther M , Southey, Melissa C , Malats, Nuria , Dunning, Alison M , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , García-Closas, Montserrat , Schmidt, Marjanka K , Severi, Gianluca , Ekici, Arif B , Hartikainen, Jaana M , Bogdanova, Natalia V , Chenevix-Trench, Georgia , Pylkäs, Katri , Manoukian, Siranoush , Lubinski, Jan , Baglietto, Laura , Fletcher, Olivia , Bojesen, Stig E , Huang, Chiun-Sheng , Sawyer, Elinor J , Kang, Daehee
Cancer Epidemiology, Biomarkers & Prevention | October 6, 2011 | Volume: 20 | Issue: 10 | Pages: 2222-2231
Abstract Background: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, particularly estrogen receptor (ER)-positive disease. We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium. Methods: Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS), and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness and histopathology were assessed using logistic regression. Results: For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08–1.14, P = 7 × 10−18) for invasive breast cancer and 1.10 (95% CI = 1.01–1.21, P = 0.03) for DCIS. For Asian women, the estimated OR for invasive disease was similar (OR = 1.07, 95%CI = 0.99–1.15, P = 0.09). Further analyses suggested that the association in white Europeans was largely limited to progesterone receptor (PR)-positive disease (per-allele OR = 1.16, 95% CI = 1.12–1.20, P = 1 × 10−18 vs. OR = 1.03, 95% CI = 0.99–1.07, P = 0.2 for PR-negative disease; Pheterogeneity = 2 × 10−7); heterogeneity by ER status was not observed (P = 0.2) once PR status was accounted for. The association was also stronger for lower grade tumors [per-allele OR (95% CI) = 1.20 (1.14–1.25), 1.13 (1.09–1.16), and 1.04 (0.99–1.08) for grade 1, 2, and 3/4, respectively; Ptrend = 5 × 10−7]. Conclusion: 5p12 is a breast cancer susceptibility locus for PR-positive, lower grade breast cancer. Impact: Multicenter fine-mapping studies of this region are needed as a first step to identifying the causal variant or variants. Cancer Epidemiol Biomarkers Prev; 20(10); 2222–31. ©2011 AACR.
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
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Irja, Thorne, Heather , Niedermayr, Eveline, Perez-Segura, Pedro, Durocher, Francine , John, Esther M. , Adlard, Julian , Stenmark‐Askmalm, Marie , Faivre, Laurence , Szabo, Csilla I. , Mai, Phuong L., Network, Ontario Cancer Genetics, Kaufman, Bella , Collaborators, SWE-BRCA, Domchek, Susan M. , Benı́tez, Javier , Asperen, Christi J. van , Devilee, Peter , HEBON, EMBRACE, Peock, Susan, Frost, Debra, Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Godwin, Andrew K. , Lasset, Christine , Berthet, Pascaline, Caron, Olivier , Collaborators, GEMO Study, Buys, Saundra S. , Registry, The Breast Cancer Family, Singer, Christian F. , Dressler, Anne Catharina, Toland, Amanda Ewart , Isaacs, Claudine , Meindl, Alfons , Caldes, Trinidad, Chen, Xiaoqing, Beesley, Jonathan , Neuhausen, Susan L. , Couch, Fergus J. , Wang, Xianshu , Stoppa‐Lyonnet, Dominique , Mazoyer, Sylvie, Sinilnikova, Olga M., Dumont, Martine , Karlsson, Per, Borg, Åke, Soller, Maria , Jernström, Helena , Barbany, Gisela , Torres, Diana , Rashid, Muhammad Usman , Rookus, M.A., Asperen, C.J. van, Wijnen, Juul , Vreeswijk, Maaike P.G. , Devilee, P., Ligtenberg, M.J., Ausems, M.G., Luijt, Rob B. van der , Aalfs, C.M., Os, T.A. van, Gille, J.J.P., Easton, Douglas F., Cook, Margaret, Morrison, Patrick J. , Cole, Trevor, James, Margaret, Taylor, Amy , McCann, Emma, Kennedy, M. John, Snadden, Lesley, Izatt, Louise, Dorkins, Huw , Barwell, Julian, Adlard, Julian, Houghton, Catherine E. , Evans, D. Gareth, Lalloo, Fiona, Taylor, Jane Elizabeth , Berlin, Cheryl, Eeles, Ros, Houlston, Richard S. , Bancroft, Elizabeth, D'Mello, Lucia, Kohut, Kelly , Wiggins, Jennifer M. , Mitra, Anita , Cook, Jackie A , Quarrell, Oliver , Crawford, Gillian, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Bancroft, Elizabeth, D'Mello, Lucia, Sinilnikova, Olga, Sinilnikova, Olga, Giraud, Sophie, Stoppa-Lyonnet, Dominique, Moncoutier, Virginie, Pauw, Antoine de, Bressac-de-Paillerets, Brigitte, Remenieras, Audrey, Lasset, Christine, Bonadona, Valérie, Eisinger, François, Pujol, Pascal , Fournier, Joëlle , Vennin, Philippe, Delnatte, Capucine, Ejlertsen, Bent , Kjærgaard, Susanne, Senter, Leigha , Craven, Caroline M. , Pharoah, Paul D.P. , Harrington, Patricia , Blomqvist, Carl , Heikkinen, Tuomas , Hoya, Miguel de la , Nevanlinna, H , Caligo, Maria A , Peterlongo, Paolo , Spurdle, Amanda B , Eccles, Diana , Moysich, Kirsten , Radice, Paolo , Adlard, Julian , Arnold, Norbert , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , John, Esther M , Southey, Melissa C , Nathanson, Katherine L , Engel, Christoph , Montagna, Marco , Simard, Jacques , Chenevix-Trench, Georgia , Faivre, Laurence , Gómez-García, Encarna B , Hansen, Thomas van Overeem , Manoukian, Siranoush , Terry, Mary Beth , Lindblom, Annika , Ellis, Ian
Human Molecular Genetics | September 3, 2011 | Volume: 20 | Issue: 23 | Pages: 4732-4747