Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

ABSTRACT: Cancer, like many common disorders, has a complex etiology, often with a strong genetic component and with multiple environmental factors contributing to susceptibility. A considerable number of genomic variants have been previously reported to be causative of, or associated with, an increased risk for various types of cancer. Here, we adopted a next-generation sequencing approach in 11 members of two families of Greek descent to identify all genomic variants with the potential to predispose family members to cancer. Cross-comparison with data from the Human Gene Mutation Database identified a total of 571 variants, from which 47 % were disease-associated polymorphisms, 26 % disease-associated polymorphisms with additional supporting functional evidence, 19 % functional polymorphisms with

SUBMITTER: Karageorgos I 

PROVIDER: S-EPMC4499216 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature