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000282340 1001_ $$aWilcox, Naomi$$b0
000282340 245__ $$aExome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
000282340 260__ $$aLondon$$bMacmillan Publishers Limited, part of Springer Nature$$c2023
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000282340 500__ $$a2023 Sep;55(9):1435-1439
000282340 520__ $$aLinkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls. Burden tests were performed for protein-truncating and rare missense variants in 15,616 and 18,601 genes, respectively. Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P < 2.5 × 10-6): the five known susceptibility genes ATM, BRCA1, BRCA2, CHEK2 and PALB2, together with MAP3K1. Associations were also observed for LZTR1, ATR and BARD1 with P < 1 × 10-4. Associations between predicted deleterious rare missense or protein-truncating variants and breast cancer were additionally identified for CDKN2A at exome-wide significance. The overall contribution of coding variants in genes beyond the previously known genes is estimated to be small.
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000282340 7001_ $$aDumont, Martine$$b1
000282340 7001_ $$aGonzález-Neira, Anna$$b2
000282340 7001_ $$aCarvalho, Sara$$b3
000282340 7001_ $$aJoly Beauparlant, Charles$$b4
000282340 7001_ $$aCrotti, Marco$$b5
000282340 7001_ $$aLuccarini, Craig$$b6
000282340 7001_ $$aSoucy, Penny$$b7
000282340 7001_ $$aDubois, Stéphane$$b8
000282340 7001_ $$aNuñez-Torres, Rocio$$b9
000282340 7001_ $$aPita, Guillermo$$b10
000282340 7001_ $$00000-0001-9671-1533$$aGardner, Eugene J$$b11
000282340 7001_ $$aDennis, Joe$$b12
000282340 7001_ $$aAlonso, M Rosario$$b13
000282340 7001_ $$aÁlvarez, Nuria$$b14
000282340 7001_ $$aBaynes, Caroline$$b15
000282340 7001_ $$aCollin-Deschesnes, Annie Claude$$b16
000282340 7001_ $$aDesjardins, Sylvie$$b17
000282340 7001_ $$00000-0002-8808-6667$$aBecher, Heiko$$b18
000282340 7001_ $$0P:(DE-He78)6b04712f3afe72044d496a25505cb1ea$$aBehrens, Sabine$$b19$$udkfz
000282340 7001_ $$aBolla, Manjeet K$$b20
000282340 7001_ $$aCastelao, Jose E$$b21
000282340 7001_ $$0P:(DE-He78)c259d6cc99edf5c7bc7ce22c7f87c253$$aChang-Claude, Jenny$$b22$$udkfz
000282340 7001_ $$aCornelissen, Sten$$b23
000282340 7001_ $$00000-0002-9458-0282$$aDörk, Thilo$$b24
000282340 7001_ $$aEngel, Christoph$$b25
000282340 7001_ $$aGago-Dominguez, Manuela$$b26
000282340 7001_ $$00000-0002-8359-518X$$aGuénel, Pascal$$b27
000282340 7001_ $$aHadjisavvas, Andreas$$b28
000282340 7001_ $$aHahnen, Eric$$b29
000282340 7001_ $$aHartman, Mikael$$b30
000282340 7001_ $$aHerráez, Belén$$b31
000282340 7001_ $$aInvestigators, SGBCC$$b32$$eCollaboration Author
000282340 7001_ $$0P:(DE-He78)bce1fdec5ce564e2666156d96aeabec9$$aJung, Audrey Ying-Chee$$b33
000282340 7001_ $$aKeeman, Renske$$b34
000282340 7001_ $$aKiechle, Marion$$b35
000282340 7001_ $$00000-0001-8587-7511$$aLi, Jingmei$$b36
000282340 7001_ $$aLoizidou, Maria A$$b37
000282340 7001_ $$00000-0001-5945-3440$$aLush, Michael$$b38
000282340 7001_ $$00000-0001-7065-1237$$aMichailidou, Kyriaki$$b39
000282340 7001_ $$00000-0002-1450-3552$$aPanayiotidis, Mihalis I$$b40
000282340 7001_ $$00000-0002-1233-7642$$aSim, Xueling$$b41
000282340 7001_ $$00000-0002-0444-590X$$aTeo, Soo Hwang$$b42
000282340 7001_ $$00000-0003-3724-4757$$aTyrer, Jonathan P$$b43
000282340 7001_ $$avan der Kolk, Lizet E$$b44
000282340 7001_ $$aWahlström, Cecilia$$b45
000282340 7001_ $$aWang, Qin$$b46
000282340 7001_ $$00000-0001-6483-3771$$aPerry, John R B$$b47
000282340 7001_ $$aBenitez, Javier$$b48
000282340 7001_ $$00000-0002-2228-429X$$aSchmidt, Marjanka K$$b49
000282340 7001_ $$aSchmutzler, Rita K$$b50
000282340 7001_ $$00000-0001-8494-732X$$aPharoah, Paul D P$$b51
000282340 7001_ $$aDroit, Arnaud$$b52
000282340 7001_ $$00000-0001-6651-7166$$aDunning, Alison M$$b53
000282340 7001_ $$00000-0002-1358-0695$$aKvist, Anders$$b54
000282340 7001_ $$00000-0002-8023-2009$$aDevilee, Peter$$b55
000282340 7001_ $$00000-0003-2444-3247$$aEaston, Douglas F$$b56
000282340 7001_ $$00000-0001-6906-3390$$aSimard, Jacques$$b57
000282340 7001_ $$aTan, Benita Kiat-Tee$$b58$$eContributor
000282340 7001_ $$aTan, Veronique Kiak Mien$$b59$$eContributor
000282340 7001_ $$aTan, Su-Ming$$b60$$eContributor
000282340 7001_ $$aLim, Geok Hoon$$b61$$eContributor
000282340 7001_ $$aTan, Ern Yu$$b62$$eContributor
000282340 7001_ $$aHo, Peh Joo$$b63$$eContributor
000282340 7001_ $$aKhng, Alexis Jiaying$$b64$$eContributor
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