A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer.

ABSTRACT:

Background

Four Fanconi anemia (FA) genes (BRCA1, BRCA2, PALB2 and RAD51C) are defined as breast cancer (BC) susceptibility genes. Other FA genes have been inconsistently associated with BC. Thus, the role of other FA genes in BC should be explored in specific populations.

Methods

Mutations in 16 FA genes were screened with a 98-gene panel sequencing assay in a cohort of 1481 Chinese patients with high-risk hereditary BC. The association between mutations and clinicopathological characteristics as well as prognosis was analyzed. The risk of BC in carriers of FA gene mutations was assessed in the Genome Aggregation Database and the Westlake Biobank for Chinese cohort.

Results

A total of 2.57% (38/1481) BC patients were identified who had 12 other FA gene germline mutat

SUBMITTER: Zhu QY 

PROVIDER: S-EPMC10590287 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature