Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.

ABSTRACT:

Background

Studies on the prevalence of BRCA1/2 mutations in ovarian cancer mainly focused on germline single-nucleotide variant (SNV)/insertion/deletion (indel). The status of large genomic rearrangement (LRG) and somatic mutation were poorly investigated.

Methods

Paired blood and tumor DNA from an unselected cohort of 115 Chinese high grade serous ovarian cancer (HGSOC) patients were collected and analyzed for BRCA1/2 SNV and indel by NGS. BRCA1/2 LRG was detected by MLPA. Clinicopathological characteristics including age at diagnosis, FIGO stage, family history and follow-up data were collected for further analysis.

Results

A total of 115 HGSOC patients were screened. Among them, 30 (26.1%) had germline BRCA1/2 mutations, including 19 (1

SUBMITTER: Ji G 

PROVIDER: S-EPMC8039691 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature