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GENATLAS PHENOTYPE
last update : 05-12-2009
Symbol HNPCC2
Location 3p22.2
Name hereditary non polyposis colorectal cancer, type 2
Other name(s)
  • Lynch syndrome
  • colon cancer, familial nonpolyposis, type 2
    • Corresponding gene MLH1
    Other symbol(s) CRC2, COCA2
    Main clinical features
  • in addition to the colon, organs commonly affected with cancer include the endometrium, stomach, biliary and pancreatic system, and urinary tract
  • microsatellite instability (MSI phenotypes)
    • Genetic determination autosomal dominant
    Function/system disorder digestive tract/gastrointestinal
    neoplasia
    Type susceptibility factor
    Gene product
    Name DNA mismatch repair protein Mlh1, dimerizes with the product of the PMS2 gene
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     large genomic deletions in both MSH2 and MLH1 genes may play a considerable role in the pathogenesis of HNPCC
    other epigenetic     epigenetic germline defects of MLH1
    various types     over 200 mutations have been reported in MLH1
    duplication     genomic duplications
    Remark(s) susceptibility to HNPCC/Lynch syndrome have been convincely linked to mutations in four MMR(mismatch repair) genes: MSH2 (~50 percent), MLH1(~40 percent), MSH6(~10 percent), and PMS2. Clinical significance of mutations in MLH3 and PMS1 are less clear.
    Genotype/Phenotype correlations a risk increase due to smoking, that may differ by the MLH1 93G>A genotype