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Home > A. Molecular pathology > PMS2


MIM.600259 7p22

Friday 14 May 2004


The PMS2 gene encodes a protein involved in the mismatch repair (MMR) complex.


- PMS2-associated Turcot syndrome with glioblastoma (MIM.276300)
- PMS2-associated pediatric cancers
- PMS2-associated 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.

- PMS2 gene mutation results in DNA mismatch repair system failure in adult-type granulosa cell tumor

  • Granulosa cell tumors are rare ovarian malignancies.
  • Their characteristics include unpredictable indolent growth with malignant potential and late recurrence.
  • Approximately 95% are of adult type.
  • Molecular studies have characterized the FOXL2 402C > G mutation in adult granulosa cell tumor.
  • Unique FOXL2-402C > G mutation and defective DNA mismatch repair system are associated with the development of adult-type granulosa cell tumor.
  • Although FOXL2-402C > G mutation determines the development of granulosa cell tumor, PMS2 mutation may be the initial driver of carcinogenesis.
  • Immunohistochemistry-based tumor testing for mismatch repair gene expression may be necessary for granulosa cell tumors to determine their malignant potential or if they are part of Lynch syndrome. PMID: 28347324

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

Open References

- PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor. Wang WC, Lee YT, Lai YC. J Ovarian Res. 2017 Mar 27;10(1):22. doi : 10.1186/s13048-017-0317-4 PMID: 28347324 Free

- 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