A Population-Based Study of Genes Previously Implicated in Breast Cancer.

ABSTRACT:

Background

Population-based estimates of the risk of breast cancer associated with germline pathogenic variants in cancer-predisposition genes are critically needed for risk assessment and management in women with inherited pathogenic variants.

Methods

In a population-based case-control study, we performed sequencing using a custom multigene amplicon-based panel to identify germline pathogenic variants in 28 cancer-predisposition genes among 32,247 women with breast cancer (case patients) and 32,544 unaffected women (controls) from population-based studies in the Cancer Risk Estimates Related to Susceptibility (CARRIERS) consortium. Associations between pathogenic variants in each gene and the risk of breast cancer were assessed.

Results

Pathogenic variants in 12 esta

SUBMITTER: Hu C 

PROVIDER: S-EPMC8127622 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature