Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.

ABSTRACT: Half of the high-risk colorectal cancer families that fulfill the clinical criteria for Lynch syndrome lack germline mutations in the mismatch repair (MMR) genes and remain unexplained. Genetic testing for hereditary cancers is rapidly evolving due to the introduction of multigene panels, which may identify more mutations than the old screening methods. The aim of this study is the use of a Next Generation Sequencing panel in order to find the genes involved in the cancer predisposition of these families. For this study, 98 patients from these unexplained families were tested with a multigene panel targeting 94 genes involved in cancer predisposition. The mutations found were validated by Sanger sequencing and the segregation was studied when possible. We identified 19 likely pathogenic va

SUBMITTER: Martin-Morales L 

PROVIDER: S-EPMC6157886 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature