Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.

ABSTRACT:

Background

Germline BRCA1/2 mutations are identified in 13-15% of ovarian cancers, while an additional 5-7% of ovarian cancers harbor somatic BRCA1/2 mutations. Beyond these mutations, germline or somatic aberrations in genes of the homologous recombination (HR) pathway such as RAD51B/C/D, PALB2, ATM, BRIP1 may confer an HR deficiency in up to 50% of ovarian tumors. Next-generation sequencing (NGS) is a high-throughput massive parallel sequencing method that enables the simultaneous detection of several mutations in entire genomes.

Methods

We performed NGS analysis in 86 patients with ovarian cancer treated in the Oncology Department of Alexandra University Hospital in order to identify the molecular landscape of germline and somatic mutations in ovarian cancer.

Re

SUBMITTER: Andrikopoulou A 

PROVIDER: S-EPMC9754718 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature