Journal article

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women

Leila Dorling, Sara Carvalho, Jamie Allen, Anna Gonzalez-Neira, Craig Luccarini, Cecilia Wahlstrom, Karen A Pooley, Michael T Parsons, Cristina Fortuno, Qin Wang, Manjeet K Bolla, Joe Dennis, Renske Keeman, M Rosario Alonso, Nuria Alvarez, Belen Herraez, Victoria Fernandez, Rocio Nunez-Torres, Ana Osorio, Jeanette Valcich Show all

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


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 va..

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Awarded by European Union Horizon 2020 research and innovation program BRIDGES

Awarded by European Union Horizon 2020 research and innovation program B-CAST

Awarded by Wellcome Trust

Awarded by Cancer Research UK

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