Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes.

ABSTRACT:

Background

Women with a familial predisposition to breast cancer (BC) are offered screening at earlier ages and more frequently than women from the general population.

Methods

We evaluated the effect of screening mammography in 1552 BC cases with a hereditary predisposition to BC unexplained by BRCA1 or BRCA2 and 1363 unrelated controls. Participants reported their lifetime mammography exposures in a detailed questionnaire. Germline rare deleterious or predicted deleterious variants (D-PDVs) in 113 DNA repair genes were investigated in 82.5% of the women and classified according to the strength of their association with BC. Genes with an odds ratio (OR) < 0.9 was assigned to the Gene Group "Reduced", those with OR ≥ 0.9 and ≤1.1 to Group "Independent", and thos

SUBMITTER: Ribeiro-Guerra M 

PROVIDER: S-EPMC11987804 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature