Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers

  title={Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers},
  author={Solene Houlle and Françoise Charbonnier and Estelle Houivet and Julie Tinat and Marie-Pierre Buisine and Olivier Caron and Jacques Benichou and St{\'e}phanie Baert-Desurmont and Thierry 11 Fr{\'e}bourg},
  journal={European Journal of Human Genetics},
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… CONTINUE READING
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