PMS2 variants-defective DNA mismatch repair

Stable Identifier
Reaction [FailedReaction]
Homo sapiens
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PMS2 heterodimerizes with MLH1 to form the MutL alpha complex involved in DNA mismatch repair. Two variants PMS2 ARG134TER and PMS2 ARG628TER are described here. Both variants were associated with mismatch repair deficiencies in separate individuals including: colonic adenomas, lymphoma of the rectum, glioblastoma, and multiple cafe-au-lait spots (Hamilton et al., 1995). Genetic analysis of the tumor identified a heterozygous C-to-T transition in the PMS2 gene, resulting in the PMS2 ARG134TER (R134X) substitution. The PMS2 ARG628TER variant was identified as a heterozygous 2-bp deletion in exon 13, within a repeated dinucleotide (CTCT) at codon 728-729 (De Vos et al., 2004). Both variants inherited in an autosomal recessive fashion.

Literature References
PubMed ID Title Journal Year
8128251 Mutation of a mutL homolog in hereditary colon cancer

Wei, YF, Fleischmann, RD, Papadopoulos, N, Rosen, CA, Haseltine, WA, Nicolaides, NC, Adams, MD, Carter, KC, Ruben, SM, Fraser, CM

Science 1994
10783165 BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures

Yazdi, P, Cortez, D, Neff, N, Elledge, SJ, Qin, J, Wang, Y

Genes Dev. 2000
Normal reaction
Functional status

Loss of function of PMS2 Variants [nucleoplasm]

Name Identifier Synonyms
colorectal cancer DOID:9256
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