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Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X
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Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X
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Journal Article
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X
2014
Overview
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.
It is known that hereditary factors contribute to familial colorectal cancer type X. Here, the authors uncover the SEMA4A p.Val78Met germline mutation and show that the protein product is associated with changes in cell cycle progression in colorectal cancer cells.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Pub. Group
Subject
/ 42/109
/ 82/80
/ 96/1
/ Adult
/ Aged
/ Colorectal Neoplasms - genetics
/ Colorectal Neoplasms - metabolism
/ Female
/ Genes
/ Genetic Predisposition to Disease
/ Genetics
/ Genomics
/ Humanities and Social Sciences
/ Humans
/ Male
/ Medicine
/ Mutation
/ Phorbols
/ Science
/ Tumors
