KEGG   VARIANT: 4436v1
Entry
4436v1                      Variant                                
Name
MSH2 mutation
Type
Loss of function
Gene
MSH2  mutS homolog 2 [KO:K08735]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609309
Network
nt06503  Mismatch repair
Disease
H02565  Hereditary nonpolyposis colorectal cancer
H02566  Muir-Torre syndrome
Reference
PMID:15350299
  Authors
Huang RL, Chao CF, Ding DC, Yu CP, Chang CC, Lai HC, Yu MH, Liu HS, Chu TY
  Title
Multiple epithelial and nonepithelial tumors in hereditary nonpolyposis colorectal cancer: characterization of germline and somatic mutations of the MSH2 gene and heterogeneity of replication error phenotypes.
  Journal
Cancer Genet Cytogenet 153:108-14 (2004)
DOI:10.1016/j.cancergencyto.2004.01.003
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