Correspondence: SEMA4A variation and risk of colorectal cancer

Sill and co-workers 1 report that germline variation in semaphorin 4A ( SEMA4A ) influences colorectal cancer (CRC) risk. This stems from identifying the SEMA4A p.Val78Met variant in one kindred with familial colorectal cancer type X (FCCTX) and subsequently p.Gly484Ala (c.1451G>C, rs148744804) and p.Ser326Phe (c.977C>T) mutations along with the single nucleotide polymorphism (SNP) p.Pro682Ser (c.2044C>T, rs76381440) among an additional 53 FCCTX cases. In comparing the frequency of rs76381440 genotype in 47 FCCTX cases and 1,138 controls, c.2044T carrier status was reported to be associated with 6.79-fold increased CRC risk 1 .

Abstract licence: CC BY-NC-ND

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