Study

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

Study ID Alternative Stable ID Type
EGAS00001000957 Other

Study Description

Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here, using an integrative genomics strategy, we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX. Compared with wild-type protein, SEMA4AV78M demonstrates significantly increased MAPK/Erk and PI3K/Akt signaling 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.

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
EGAD00001001009
Exome sequencing of peripheral blood from 4 individuals of a family with familial colorectal cancer type X
Illumina HiSeq 2000 4
EGAD00001001010
Sequencing of colorectal tumors and normal tissue using Ion AmpliSeq Cancer Hotspot Panel V2
Ion Torrent Proton 8

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