Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.

ABSTRACT:

Background

Little is known about the genetic background of individuals with familial pancreatic cancer (PC). Integrating germline testing into surveillance may uncover previously unrecognized hereditary susceptibility and expand prevention strategies beyond BRCA testing alone. This study evaluated the genetic landscape of high-risk individuals due to familiality (HRI-FHs) enrolled in a national surveillance program.

Methods

Five hundred HRI-FHs from seven centers underwent surveillance and germline testing with a 41-gene NGS panel. Pathogenic/likely pathogenic variants (PGVs) and variants of unknown significance (VUS) were identified and correlated with clinical and imaging findings.

Results

Overall, forty-four (8.8%) out of 500 HRI-FHs carried at least one PGV, inclu

SUBMITTER: Paiella S 

PROVIDER: S-EPMC12906649 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature