Breast cancer risk genes - Association analysis in more than 113,000 women

L Dorling; S Carvalho; J Allen; A González-Neira; C Luccarini; C Wahlström; KA Pooley; MT Parsons; C Fortuno; Q Wang; MK Bolla; J Dennis; R Keeman; MR Alonso; N Álvarez; B Herraez; V Fernandez; R Núñez-Torres; A Osorio; J Valcich; M Li; T Törngren; PA Harrington; C Baynes; DM Conroy; B Decker; L Fachal; N Mavaddat; T Ahearn; K Aittomäki; NN Antonenkova; N Arnold; P Arveux; MGEM Ausems; P Auvinen; H Becher; MW Beckmann; S Behrens; M Bermisheva; K Białkowska; C Blomqvist; NV Bogdanova; N Bogdanova-Markov; SE Bojesen; B Bonanni; AL Børresen-Dale; H Brauch; M Bremer; I Briceno; T Brüning; B Burwinkel; DA Cameron; NJ Camp; A Campbell; A Carracedo; JE Castelao; MH Cessna; SJ Chanock; H Christiansen; JM Collée; E Cordina-Duverger; S Cornelissen; K Czene; T Dörk; AB Ekici; C Engel; M Eriksson; PA Fasching; J Figueroa; H Flyger; A Försti; M Gabrielson; M Gago-Dominguez; V Georgoulias; F Gil; GG Giles; G Glendon; EB Gómez Garcia; GI Grenaker Alnæs; P Guénel; A Hadjisavvas; L Haeberle; E Hahnen; P Hall; U Hamann; EF Harkness; JM Hartikainen; M Hartman; W He; BAM Heemskerk-Gerritsen; P Hillemanns; FBL Hogervorst; A Hollestelle; WK Ho; MJ Hooning; A Howell; K Humphreys; F Idris; A Jakubowska; A Jung

Journal article

Breast cancer risk genes - Association analysis in more than 113,000 women

L Dorling, S Carvalho, J Allen, A González-Neira, C Luccarini, C Wahlström, KA Pooley, MT Parsons, C Fortuno, Q Wang, MK Bolla, J Dennis, R Keeman, MR Alonso, N Álvarez, B Herraez, V Fernandez, R Núñez-Torres, A Osorio, J Valcich Show all

New England Journal of Medicine | MASSACHUSETTS MEDICAL SOC | Published : 2021

DOI: 10.1056/NEJMoa1913948

Abstract

BACKGROUND Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking. METHODS We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated odds ratios for breast cancer overall and tumor subtypes. We evaluated missense-variant associations according to domain and classification of pathogenicity. RESULTS Protein-truncating varia..

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University of Melbourne Researchers

Graham Giles Author

Robert MacInnis Author

Catriona McLean Author

Melissa Southey Author

Grants

Awarded by Wellcome Trust

Funding Acknowledgements

Supported by the European Union Horizon 2020 research and innovation programs BRIDGES (grant number, 634935) and B-CAST (633784), the Wellcome Trust (v203477/Z/16/Z), and Cancer Research UK (C1287/A16563). Details regarding funding of specific studies are provided in the Supplementary Appendix. Disclosure forms provided by the authors are available with the full text of this article at NEJM.org.