Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.

ABSTRACT:

Background

The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.

Methods

Data for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pat

SUBMITTER: O'Mahony DG 

PROVIDER: S-EPMC10241792 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature