Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

doi:10.1038/ncomms6191

Article

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Nature communications - 13 Oct 2014

Schulz Eduard, Klampfl Petra, Holzapfel Stefanie, Janecke Andreas R, Ulz Peter, Renner Wilfried, Kashofer Karl, Nojima Satoshi, Leitner Anita, Zebisch Armin, Wölfler Albert, Hofer Sybille, Gerger Armin, Lax Sigurd, Beham-Schmid Christine, Steinke Verena, Heitzer Ellen, Geigl Jochen B, Windpassinger Christian, Hoefler Gerald, Speicher Michael R, Boland C Richard, Kumanogoh Atsushi, Sill Heinz

Abstract excerpt

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...

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