Characterization of Frequently Mutated Cancer Genes and Tumor Mutation Burden in Chinese Breast Cancer.

ABSTRACT:

Objectives

Various genomic alterations and genomic signatures, including ERBB2 amplification, mutations in PIK3CA, AKT1, and ESR1, and tumor mutational burden (TMB), have become important biomarkers for treatment selection in breast cancer (BC). This study aimed to investigate the mutational features of Chinese early-stage BC patients.

Methods

Tumors and matched blood samples collected from 589 Chinese patients with early-stage BC were sequenced using a commercial gene panel consisting of 520 cancer-related genes to analyze all types of genomic alterations and estimate the TMB status.

Results

A total of 18 genes were found to be more frequently mutated (P<0.05) or amplified (P<0.05) in stage T3-4 tumors as compared with T1-2 t

SUBMITTER: Xiao W 

PROVIDER: S-EPMC8096980 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature