The PMS2 gene encodes a protein involved in the mismatch repair (MMR) complex.
Pathology
PMS2 mutations in Turcot syndrome with glioblastoma (MIM.276300)
PMS2 mutations in syndrome associating cutaneous cafe-au-lait spots (CALS) and early-onset supratentorial primitive neuroectodermal tumor (SPNET) (MIM.608623) (15077197)
Heterozygous germline mutations in mismatch repair (MMR) genes MLH1, PMS2, MSH2, and MSH6 cause Lynch syndrome.
Biallelic mutations of MLH1, PMS2, MSH2, and MSH6 lead to a distinctive syndrome, childhood cancer syndrome (CCS), with haematological malignancies and tumours of brain and bowel early in childhood, often associated with signs of neurofibromatosis type 1.
We provide further evidence for CCS reporting on six children from two consanguineous families carrying homozygous PMS2 germline mutations.
Tumor predisposition
Lynch-syndrome associated tumours
- colorectal cancers
- glioblastoma
infantile myofibromatosis (infantile myofibroma) (17851451)
non-Hodgkin lymphoma
multiple café-au-lait spots
early-onset haematological malignancy (17851451)
brain tumours
HNPCC-associated tumours
neurofibromatosis type 1 (17851451)
See also
DNA mismatch repair (MMR) complex
References
Krüger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Görgens H, Boue S, Kölble K, Büttner R, Schackert HK. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1. Eur J Hum Genet. 2008 Jan;16(1):62-72. PMID: 17851451