The impact of coding germline variants on contralateral breast cancer risk and survival

A Morra; N Mavaddat; TA Muranen; TU Ahearn; J Allen; IL Andrulis; P Auvinen; H Becher; S Behrens; C Blomqvist; SE Bojesen; MK Bolla; H Brauch; NJ Camp; S Carvalho; JE Castelao; MH Cessna; J Chang-Claude; G Chenevix-Trench; KK Sahlberg; AL Børresen-Dale; IT Gram; KS Olsen; O Engebråten; B Naume; J Geisler; OSBREAC; GI Grenaker Alnæs; K Czene; B Decker; J Dennis; T Dörk; L Dorling; AM Dunning; AB Ekici; M Eriksson; DG Evans; PA Fasching; JD Figueroa; H Flyger; M Gago-Dominguez; M García-Closas; WRR Geurts-Giele; GG Giles; P Guénel; M Gündert; E Hahnen; P Hall; U Hamann; PA Harrington; W He; P Heikkilä; MJ Hooning; R Hoppe; A Howell; K Humphreys; D Amor; L Andrews; Y Antill; R Balleine; J Beesley; I Bennett; M Bogwitz; L Botes; M Brennan; M Brown; M Buckley; J Burke; P Butow; L Caldon; I Campbell; M Cao; A Chakrabarti; D Chauhan; M Chauhan; A Christian; P Cohen; A Colley; A Crook; J Cui; E Courtney; M Cummings; SJ Dawson; A DeFazio; M Delatycki; R Dickson; J Dixon; T Edkins; S Edwards; G Farshid; A Fellows; G Fenton; M Field; J Flanagan; P Fong; L Forrest; S Fox; J French; M Friedlander; C Gaff

Journal article

The impact of coding germline variants on contralateral breast cancer risk and survival

A Morra, N Mavaddat, TA Muranen, TU Ahearn, J Allen, IL Andrulis, P Auvinen, H Becher, S Behrens, C Blomqvist, SE Bojesen, MK Bolla, H Brauch, NJ Camp, S Carvalho, JE Castelao, MH Cessna, J Chang-Claude, G Chenevix-Trench, KK Sahlberg Show all

American Journal of Human Genetics | Published : 2023

DOI: 10.1016/j.ajhg.2023.02.003

Abstract

Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The aim of this study was to assess the association of protein-truncating variants (PTVs) and rare missense variants (MSVs) in nine known (ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and TP53) and 25 suspected BC-susceptibility genes with CBC risk and BCSS. Hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated with Cox regression models. Analyses included 34,401 women of European ancestry diagnosed with BC, including 676 CBCs and 3,449 BC deaths; the..

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