Homologous recombination pathway gene variants identified by tumor-only sequencing assays in lung carcinoma patients.

ABSTRACT:

Background

The homologous recombination (HR) repair pathway plays a key role in double-stranded DNA break repair, and germline HR pathway gene variants are associated with increased risk of several cancers, including breast and ovarian cancer. HR deficiency is also a therapeutically targetable phenotype.

Methods

Somatic (tumour-only) sequencing was performed on 1,109 cases of lung tumors, and the pathological data were reviewed to filter for lung primary carcinomas. Cases were filtered for variants (disease-associated or of uncertain significance) in 14 HR pathway genes, including BRCA1, BRCA2, and ATM. The clinical, pathological and molecular data were reviewed.

Results

Sixty-one HR pathway gene variants in 56 patients with primary lung cancer we

SUBMITTER: Yoon JY 

PROVIDER: S-EPMC10326790 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature