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GENATLAS PHENOTYPE
last update : 7/07/2006
Symbol HNPCC5
Location 2p16.3
Name hereditary non polyposis colorectal cancer, type 5
Other name(s) Lynch syndrome
Corresponding gene MSH6
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 dominant
    Function/system disorder digestive tract/gastrointestinal
    neoplasia
    Type susceptibility factor
    Gene product
    Name DNA mismatch repair protein MSH6
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     over 30 mutations identified
    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.