Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer.

ABSTRACT:

Background

Genetic testing for breast cancer (BC) patients may shift the paradigm towards more personalized management and treatment strategies. While gene alterations may be ethnic-specific in breast cancer, our understanding of genetic epidemiology of BC remains mainly driven by data from Caucasian populations and further limited to selected handful of genes.

Methods

We collected whole blood samples from 356 BC patients at metastatic first line BC and primary stage IV disease at Beijing Cancer Hospital between Jan. 2013 to Dec. 2019. A comprehensive 600-gene cancer panel was used to detect germline variants in the covered genes with a median 300x sequencing depth. Variants were classified into pathogenic, likely pathogenic, variant of uncertain significance, likely benign

SUBMITTER: Zhang J 

PROVIDER: S-EPMC9043949 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature