Landscape of germline BRCA1/BRCA2 variants in breast and ovarian cancer in Peru.

ABSTRACT:

Background

There is an increasing amount of data from Latin America on the characterization of BRCA variants; however, there is limited information from Peru. We conducted a retrospective study to describe germline pathogenic/likely pathogenic(P/LP) variants and variants of uncertain/unknown significance (VUS) in the BRCA1 and BRCA2 genes in Peru, in patients with breast and ovarian cancer, candidates for treatment with poly (adenosine diphosphate-ribose) polymerase (PARP) inhibitors.

Methods

The patients were evaluated during the period 2019-2021. Genomic DNA was isolated from peripheral blood samples and targeted sequencing was performed using the Ampliseq BRCA panel. Genetic variant interpretation was carried out in accordance with the recommendations of the American Coll

SUBMITTER: Ferreyra Y 

PROVIDER: S-EPMC10470619 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature