Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

ABSTRACT:

Background

In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death from cancer among women. Studies predominantly involve hereditary and familial cases, demonstrating a gap in the literature regarding the identification of germline mutations in unselected patients from Latin-America. Identification of pathogenic/likely pathogenic (P/LP) variants is important for shaping national genetic analysis policies, genetic counseling, and early detection strategies. The present study included 400 women with unselected breast cancer (BC), in whom we analyzed ten genes, using Whole Exome Sequencing (WES), know to confer risk for BC, with the aim of determining the genomic profile of previously unreported P/LP variants in the affec

SUBMITTER: Sierra-Diaz DC 

PROVIDER: S-EPMC11184794 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature