Defective Mismatch Repair Associated With PMS2

Stable Identifier
R-HSA-5632987
Type
Pathway
Species
Homo sapiens
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PMS2 heterodimerizes with MLH1 to form the MutL alpha complex involved in DNA mismatch repair. Mutations in this PMS2 are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Heterozygous truncating mutations in PMS2 play a role in a small subset of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome, HNPCC-like) families. PMS2 mutations lead to microsatellite instability with carriers showing a microsatellite instability high phenotype and loss of PMS2 protein expression in all tumors.

Literature References
PubMed ID Title Journal Year
16472587 Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)

Hendriks, YM, Jagmohan-Changur, S, van der Klift, HM, Morreau, H, van Puijenbroek, M, Tops, C, van Os, T, Wagner, A, Ausems, MG, Gomez, E, Breuning, MH, Bröcker-Vriends, AH, Vasen, HF, Wijnen, JT

Gastroenterology 2006
7661930 The molecular basis of Turcot's syndrome

Hamilton, SR, Liu, B, Parsons, RE, Papadopoulos, N, Jen, J, Powell, SM, Krush, AJ, Berk, T, Cohen, Z, Tetu, B

N. Engl. J. Med. 1995
Participants
Participant Of
Disease
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
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