Skip Navigation
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

PMS2

Reviewed April 2008

What is the official name of the PMS2 gene?

The official name of this gene is “PMS2 postmeiotic segregation increased 2 (S. cerevisiae).”

PMS2 is the gene's official symbol. The PMS2 gene is also known by other names, listed below.

What is the normal function of the PMS2 gene?

The PMS2 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. The PMS2 protein joins with the MLH1 protein to form an active protein complex. This protein complex coordinates the activities of other proteins that repair mistakes made during DNA replication. Repairs are made by removing the section of DNA that contains mistakes and replacing it with a corrected DNA sequence. The PMS2 gene is a member of a set of genes known as the mismatch repair (MMR) genes.

How are changes in the PMS2 gene related to health conditions?

Lynch syndrome - increased risk from variations of the PMS2 gene

Mutations in the PMS2 gene have been reported in about 2 percent of families with Lynch syndrome that have an identified gene mutation. PMS2 mutations cause the production of an abnormally short or inactivated PMS2 protein that cannot efficiently repair mistakes made during DNA replication. If the cells continue to divide, errors accumulate in DNA; the cells become unable to function properly and may form a tumor in the colon or another part of the body.

Mutations in the PMS2 gene sometimes cause a variant of Lynch syndrome called Turcot syndrome. In addition to colorectal cancer, people with Turcot syndrome tend to develop a particular type of brain tumor called a glioblastoma.

other cancers - caused by mutations in the PMS2 gene

Some individuals in families affected by Lynch syndrome have a mutation in both copies of the PMS2 gene. Most often, the same mutation occurs in both copies of the gene (a homozygous mutation) in each cell. People with a homozygous PMS2 mutation have a syndrome distinct from Lynch syndrome. In addition to colorectal cancer, they may develop cancers of the blood (leukemia or lymphoma). Some of these individuals will also develop noncancerous tumors that grow along nerves (neurofibromas) and have light brown patches of skin called café-au-lait spots. These two signs are characteristic of a condition known as neurofibromatosis. The onset of colon cancer in these individuals is extremely early, often occurring during childhood. This syndrome involving colon cancer, leukemia or lymphoma, and neurofibromatosis is sometimes called CoLoN.

Where is the PMS2 gene located?

Cytogenetic Location: 7p22.2

Molecular Location on chromosome 7: base pairs 5,979,395 to 6,015,231

The PMS2 gene is located on the short (p) arm of chromosome 7 at position 22.2.

The PMS2 gene is located on the short (p) arm of chromosome 7 at position 22.2.

More precisely, the PMS2 gene is located from base pair 5,979,395 to base pair 6,015,231 on chromosome 7.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PMS2?

You and your healthcare professional may find the following resources about PMS2 helpful.

  • Educational resources - Information pages
    • Cancer Medicine (sixth edition, 2003): DNA Mismatch Repair Gene Defects and HNPCC (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?&rid=cmed6.section.1594#1595)
    • Molecular Biology of the Cell (fourth edition, 2002): Defects in DNA Mismatch Repair Provide an Alternative Route to Colorectal Cancer (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?&rid=mboc4.section.4323#4345)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hnpcc)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=2622)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(PMS2[TIAB])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1800+Days)
  • OMIM - Genetic disorder catalog
    • OMIM: Neurofibromatosis type 1 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200)
    • OMIM: PMS2 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600259)
    • OMIM: Turcot syndrome (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276300)
  • Research Resources - Tools for researchers
    • Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/5395)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp?PMS2)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=9122)

What other names do people use for the PMS2 gene or gene products?

  • DNA mismatch repair gene homologue
  • H_DJ0042M02.9
  • HNPCC4
  • PMS2CL
  • PMS2-C terminal -like
  • PMS2_HUMAN
  • PMSL2
  • postmeiotic segregation increased (S. cerevisiae) 2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PMS2?

cancer ; cell ; cell division ; colon ; colorectal ; DNA ; DNA replication ; gene ; glioblastoma ; homozygous ; leukemia ; lymphoma ; mutation ; protein ; segregation ; sign ; syndrome ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Bandipalliam P. Syndrome of Early Onset Colon Cancers, Hematologic Malignancies & Features of Neurofibromatosis in HNPCC Families with Homozygous Mismatch Repair Gene Mutations. Fam Cancer. 2005;4(4):323-33. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16341812)
  • Cohen MM Jr. Molecular dimensions of gastrointestinal tumors: some thoughts for digestion. Am J Med Genet. 2003 Nov 1;122A(4):303-14. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14518068)
  • Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/5395)
  • Gene Review: Hereditary Non-Polyposis Colon Cancer (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hnpcc)
  • Gill S, Lindor NM, Burgart LJ, Smalley R, Leontovich O, French AJ, Goldberg RM, Sargent DJ, Jass JR, Hopper JL, Jenkins MA, Young J, Barker MA, Walsh MD, Ruszkiewicz AR, Thibodeau SN. Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation. Clin Cancer Res. 2005 Sep 15;11(18):6466-71. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16166421)
  • Gryfe R, Gallinger S. Germline PMS2 mutations: one hit or two? Gastroenterology. 2005 May;128(5):1506-9. Review. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15887130)
  • 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. Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology. 2006 Feb;130(2):312-22. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16472587)
  • Jacob S, Praz F. DNA mismatch repair defects: role in colorectal carcinogenesis. Biochimie. 2002 Jan;84(1):27-47. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11900875)
  • Lucci-Cordisco E, Zito I, Gensini F, Genuardi M. Hereditary nonpolyposis colorectal cancer and related conditions. Am J Med Genet. 2003 Nov 1;122A(4):325-34. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14518071)
  • Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003 Mar 6;348(10):919-32. Review. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12621137)
  • Marti TM, Kunz C, Fleck O. DNA mismatch repair and mutation avoidance pathways. J Cell Physiol. 2002 Apr;191(1):28-41. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11920679)
  • Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res. 2004 Jul 15;64(14):4721-7. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15256438)
  • OMIM: PMS2 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600259)
  • Peltomaki P. Lynch syndrome genes. Fam Cancer. 2005;4(3):227-32. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16136382)
  • Santucci-Darmanin S, Paquis-Flucklinger V. [Homologs of MutS and MutL during mammalian meiosis] Med Sci (Paris). 2003 Jan;19(1):85-91. Review. French. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12836196)
  • Truninger K, Menigatti M, Luz J, Russell A, Haider R, Gebbers JO, Bannwart F, Yurtsever H, Neuweiler J, Riehle HM, Cattaruzza MS, Heinimann K, Schar P, Jiricny J, Marra G. Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology. 2005 May;128(5):1160-71. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15887099)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2008
Published: January 23, 2009