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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-05-2009
Symbol HNPCC4
Location 7p22.1
Name hereditary non polyposis colorectal cancer, type 4
Other name(s) Lynch syndrome
Corresponding gene PMS2
Main clinical features
  • in addition to the colon (most often the right side), organs commonly affected with cancer include the endometrium, stomach, biliary and pancreatic system, and urinary tract
  • microsatellite instability
  • Genetic determination autosomal recessive
    autosomal dominant
    Related entries see also OMIM 114500
    Function/system disorder digestive tract/gastrointestinal
    Type susceptibility factor
    Gene product
    Name PMS1 protein homolog 2, dimerize with the product of MLH1
    Gene mutationChromosome rearrangementEffectComments
    various types     germline pms2 mutations are rare
    frameshift     c.736_741del6ins11 is a founder mutation enriched in individuals with British and Swedish ancestry
    Remark(s) susceptibility to HNPCC/Lynch syndrome have been convincely linked to mutations in four MMR 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 PMS2 mutations have been reported in families with Turcot syndrome (colorectal + central nervous system tumors)