Application of Multigene Panels Testing for Hereditary Cancer Syndromes.

ABSTRACT:

Background

Approximately 5-10% of all cancers are associated with hereditary cancer predisposition syndromes (HCPS). Early identification of HCPS is facilitated by widespread use of next-generation sequencing (NGS) and brings significant benefits to both the patient and their relatives. This study aims to evaluate the landscape of genetic variants in patients with personal and/or family history of cancer using NGS-based multigene panel testing.

Materials and methods

The study cohort included 1117 probands from Russia: 1060 (94.9%) patients with clinical signs of HCPS and 57 (5.1%) healthy individuals with family history of cancer. NGS analysis of 76 HCPS genes was performed using a custom Roche NimbleGen enrichment panel.

Results

Pathogenic/likely pathogenic variants

SUBMITTER: Bilyalov A 

PROVIDER: S-EPMC9598138 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature