Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer.

ABSTRACT:

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Pancreatic cancer is projected to become the second leading cause of cancer-related death in the United States by 2020. A familial aggregation of pancreatic cancer has been established, but the cause of this aggregation in most families is unknown. To determine the genetic basis of susceptibility in these families, we sequenced the germline genomes of 638 patients with familial pancreatic cancer and the tumor exomes of 39 familial pancreatic adenocarcinomas. Our analyses support the role of previously identified familial pancreatic cancer susceptibility genes such as BRCA2, CDKN2A, and ATM, and identify novel candidate genes harboring rare, deleterious germline variants for further characterization. We also show how somatic point mutations that occur during hematopoiesis

SUBMITTER: Roberts NJ 

PROVIDER: S-EPMC4744563 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature