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GENATLAS PHENOTYPE
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
    neoplasia
    Type susceptibility factor
    Gene product
    Name PMS1 protein homolog 2, dimerize with the product of MLH1
    Mechanism(s)
    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)