Founder BRCA1 mutations in Nepalese population.

ABSTRACT:

Background

Founder mutation is a heritable genetic alteration observed with high frequency in a geographically and culturally isolated population where one or more ancestors becomes the forebearer of the altered gene. The current study reports two founder mutations in the BRCA1 gene in the Nepalese people.

Methods

Germline BRCA testing in all surface epithelial ovarian cancers and the selected case of breast, prostate, and pancreatic cancers has been the standard practice from 2016 to 2021. One thousand one hundred thirtythree probands were screened for germline BRCA variants by next generation sequencing. The variants were classified as per the American Society of Medical Genetics and Genomics recommendations. Pathogenic (class V) and likely pathogenic (class IV) were consi

SUBMITTER: Mehta A 

PROVIDER: S-EPMC9288895 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature