2] Human genes: BRCA1, breast cancer 1, early onset; BRCA2, breast cancer 2, early onset; MGST3, microsomal glutathione S-transferase 3; GBP1, guanylate binding protein 1, interferon-inducible, 67kDa; MTAP, methylthioadenosine phosphorylase; GGH, gamma-glutamyl hydrolase (conjugase, folylpolygamma-glutamyl hydrolase); MADCAM1, mucosal vascular addressin cell adhesion molecule 1; POSTN, periostin, osteoblast specific factor; PMS1, PMS1 postmeiotic segregation increased 1 (S.
Gene Gene name US patent symbol MGST3 Microsomal glutathione S-transferase 3 5,919,627 GBP1 Guanylate binding protein 1, interferon- 6,894,157 inducible, 67kDa GGH Gamma-glutamyl hydrolase (conjugase, 5,801,031 folylpolygammaglutamyl hydrolase) MTAP Methylthioadenosine phosphorylase 5,942,393; 6,870,037 MADCAM1 Mucosal vascular addressin cell adhesion 7,750,137 molecule 1 POSTN Periostin, osteoblast specific factor 6,518,063 PMS1 PMS1 postmeiotic segregation increased 1 5,922,855; (S.
93) Germline mutations of mismatch repair genes, including MLH1, MSH2, PMS1
, PMS2, and MSH6, are associated with HNPCC.
DNA repair defects are caused by mutations in genes responsible for the repair of base-base DNA mismatches (MLH1, MLH3, MSH2, MSH6, PMS1
Germline mutations in several human DNA mismatch repair genes, including MSH2, MLH1, PMS1
, PMS2, and MSH6/GTBP, have been identified in patients with hereditary nonpolyposis colorectal cancer (HNPCC).