Ontology highlight
ABSTRACT:
SUBMITTER: Schulz E
PROVIDER: S-EPMC4214414 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Nature communications 20141013
Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX, using an integrative genomics strategy. Compared with wild-type protein, SEMA4A(V78M) demonstrates significantly increased MAPK/Erk and PI3K/Akt signalling as well as cell cycle progression of SEMA4A-deficient HCT-116 colorectal cancer cells ...[more]