1. Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients
- Author
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Ming Tan, Klaus Brusgaard, Anne‐Marie Gerdes, Martin Jakob Larsen, Michael Bau Mortensen, Sönke Detlefsen, Ove B. Schaffalitzky de Muckadell, and Maiken Thyregod Joergensen
- Subjects
Pancreatic Neoplasms ,whole genome sequencing ,Whole Genome Sequencing ,Carcinoma ,protein truncating variants ,Genetics ,pancreatic ductal adenocarcinoma ,rare variants ,Humans ,Genetic Predisposition to Disease ,familial pancreatic cancers ,Genetics (clinical) - Abstract
Pancreatic ductal adenocarcinoma (PDAC) represents one of the most lethal malignancies with very high mortality and short survival time. About 5-10% of the PDAC patients have a familial predisposition to the disease designated as familial pancreatic cancer (FPC), suggesting genetic modulation of FPC pathogenesis. It is estimated that currently identified sequence variants account for less than 20% of the genetic basis of FPC leaving the majority of the genetic architecture unclarified. We performed whole genome sequencing (WGS) analysis on benign formalin-fixed paraffin-embedded (FFPE) tissues from 35 FPC patients focusing on genes enriched by rare and functional sequence variants. We identified 40 genes hosting at least 2 protein truncating variants (PTVs). Significant overlaps of the 40 genes were found (p1 × 10
- Published
- 2022
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