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

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 variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and P

SUBMITTER: Breast Cancer Association Consortium 

PROVIDER: S-EPMC7611105 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature