Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients

Autor: Ming Tan, Klaus Brusgaard, Anne‐Marie Gerdes, Martin Jakob Larsen, Michael Bau Mortensen, Sönke Detlefsen, Ove B. Schaffalitzky de Muckadell, Maiken Thyregod Joergensen
Rok vydání: 2022
Předmět:
Zdroj: Web of Science
Tan, M, Brusgaard, K, Gerdes, A-M, Larsen, M J, Mortensen, M B, Detlefsen, S, de Muckadell, O B S & Joergensen, M T 2022, ' Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients ', Annals of Human Genetics, vol. 86, no. 4, pp. 195-206 . https://doi.org/10.1111/ahg.12464
ISSN: 1469-1809
0003-4800
DOI: 10.1111/ahg.12464
Popis: 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
Databáze: OpenAIRE
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