Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients.

ABSTRACT:

Background/objectives

BRCA1, BRCA2, ATM, and CHEK2 are known cancer predisposition genes (CPGs), but tumor risk in patients with simultaneous pathogenic variants (PVs) in CPGs remains largely unknown. In this study, we describe six patients from five families with multiple cancers who coinherited a combination of PVs in these genes.

Methods

PVs were identified using NGS DNA sequencing and were confirmed by Sanger.

Results

Families 1, 2, and 3 presented PVs in BRCA2 and ATM, family 4 in BRCA2 and BRCA1, and family 5 in BRCA2 and CHEK2. PVs were identified using NGS DNA sequencing and were confirmed by Sanger. The first family included patients with kidney, prostate, and breast cancer, in addition to

SUBMITTER: Freire MV 

PROVIDER: S-EPMC11204488 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature