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Article

Multiple functional risk variants in a SMAD7 enhancer implicate a colorectal cancer risk haplotype.

PloS one - 1 Jan 2014

Fortini Barbara K, Tring Stephanie, Plummer Sarah J, Edlund Christopher K, Moreno Victor, Bresalier Robert S, Barry Elizabeth L, Church Timothy R, Figueiredo Jane C, Casey Graham

Abstract excerpt

Genome-wide association studies (GWAS) of colorectal cancer (CRC) have led to the identification of a number of common variants associated with modest risk. Several risk variants map within the vicinity of TGFβ/BMP signaling pathway genes, including rs4939827 within an intron of SMAD7 at 18q21.1. A previous study implicated a novel SNP (novel 1 or rs58920878) as a functional variant within an enhancer element in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone Morphogenetic Proteins
Share to Chromosomes, Human, Pair 18
Share to Colorectal Neoplasms
Share to Enhancer Elements, Genetic
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Source

Open in PubMed Open full text

Identifiers

PMID: 25375357
DOI: 10.1371/journal.pone.0111914
PMCID: PMC4223076

Genes

SMAD7
BMP4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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