Ontology highlight
ABSTRACT:
SUBMITTER: Houlle S
PROVIDER: S-EPMC3172927 | biostudies-literature | 2011 Aug
REPOSITORIES: biostudies-literature
Houlle Solene S Charbonnier Françoise F Houivet Estelle E Tinat Julie J Buisine Marie-Pierre MP Caron Olivier O Benichou Jacques J Baert-Desurmont Stéphanie S Frebourg Thierry T
European journal of human genetics : EJHG 20110316 8
Several studies have reported that, in Lynch syndrome resulting from mutations of the mismatch repair (MMR) genes, a CA repeat ≤17 within the IGF1 promoter, SNPs within the xenobiotic metabolizing enzyme gene CYP1A1 and SNPs on 8q23.3 and 11q23.1 modify colorectal cancer (CRC) risk in MMR mutation carriers. We analysed the impact of these polymorphisms on CRC risk in 748 French MMR mutation carriers derived from 359 families. We also analysed the effect of the Novel 1 SNP (18q21), which has rece ...[more]