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
see also OMIM 114500
PMS1 protein homolog 2, dimerize with the product of MLH1
germline pms2 mutations are rare
c.736_741del6ins11 is a founder mutation enriched in individuals with British and Swedish ancestry
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.
PMS2 mutations have been reported in families with Turcot syndrome
(colorectal + central nervous system tumors)