Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

ABSTRACT:

Background

Germline mutations in cancer susceptibility genes were identified in pancreatic cancer (PanC) patients with a sporadic disease and in those unselected for family cancer history.

Methods

With the aim to determine the prevalence of germline predisposition genes mutations in PanC, and to evaluate whether they were associated with the presence of PanC, we profiled a custom AmpliSeq panel of 27 cancer susceptibility genes in 47 PanC patients and 51 control subjects by using the Ion Torrent PGM system.

Results

Multigene panel testing identified a total of 31 variants in 27 PanC (57.4%), including variants with pathogenic/likely pathogenic effect, those of uncertain significance, and variants whose clinical significance remains currently undefined. Five patients c

SUBMITTER: Tavano F 

PROVIDER: S-EPMC9885574 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature