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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Schulz, E; Klampfl, P; Holzapfel, S; Janecke, AR; Ulz, P; Renner, W; Kashofer, K; Nojima, S; Leitner, A; Zebisch, A; Wölfler, A; Hofer, S; Gerger, A; Lax, S; Beham-Schmid, C; Steinke, V; Heitzer, E; Geigl, JB; Windpassinger, C; Hoefler, G; Speicher, MR; Boland, CR; Kumanogoh, A; Sill, H.
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
Nat Commun. 2014; 5(10):5191-5191 Doi: 10.1038/ncomms6191 [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
Schulz Eduard
Sill Heinz
Co-Autor*innen der Med Uni Graz
Beham-Schmid Christine
Geigl Jochen Bernd
Gerger Armin
Heitzer Ellen
Höfler Gerald
Kashofer Karl
Leitner Anita
Renner Wilfried
Speicher Michael
Ulz Peter
Windpassinger Christian
Wölfler Albert
Zebisch Armin

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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. In a cohort of 53 patients with FCCTX, we depict two further SEMA4A mutations, p.Gly484Ala and p.Ser326Phe and the single-nucleotide polymorphism (SNP) p.Pro682Ser. This SNP is highly associated with the FCCTX phenotype exhibiting increased risk for colorectal cancer (OR 6.79, 95% CI 2.63 to 17.52). Our study shows previously unidentified germline variants in SEMA4A predisposing to FCCTX, which has implications for surveillance strategies of patients and their families.
Find related publications in this database (using NLM MeSH Indexing)
Adult -
Aged -
Amino Acid Sequence -
Colorectal Neoplasms - genetics
Female -
Genetic Predisposition to Disease -
Genetic Variation -
Germ Cells - metabolism
Humans -
Male -
Middle Aged -
Molecular Sequence Data -
Mutation, Missense -
Phorbols -
Semaphorins - chemistry
Sequence Alignment -

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