The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome.

ABSTRACT:

Purpose

Familial pancreatic cancer describes families with at least two first-degree relatives with pancreatic cancer that do not fulfil the criteria of other inherited tumor syndromes with increased risks of pancreatic cancer. Although much has been learned regarding the aggregation of pancreatic cancer in some families, the genetic basis for this familial aggregation is poorly understood. This study evaluated the prevalence of 10 Polish founder mutations in four genes among individuals from families with diagnosed familial pancreatic cancer syndrome and assessed their possible association with the familial pancreatic cancer (FPC) risk in Poland.

Materials and methods

In this study, 400 FPC individuals and 4,000 control subjects were genotyped for founder mutations in BR

SUBMITTER: Lener MR 

PROVIDER: S-EPMC5398394 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature