Article
Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers.
European journal of human genetics : EJHG - 1 Aug 2011
Houlle Solene, Charbonnier Françoise, Houivet Estelle, Tinat Julie, Buisine Marie-Pierre, Caron Olivier, Benichou Jacques, Baert-Desurmont Stéphanie, Frebourg Thierry
Abstract excerpt
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...
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