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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed May 2013

What is the official name of the PMS2 gene?

The official name of this gene is “PMS1 homolog 2, mismatch repair system component.”

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 another protein called MLH1 (produced from the MLH1 gene) to form a protein complex. This 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. Lynch syndrome increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the endometrium (lining of the uterus), ovaries, stomach, small intestine, liver, gallbladder duct, upper urinary tract, and brain. PMS2 gene mutations involved in this condition lead to the production of an abnormally short or inactive PMS2 protein that cannot efficiently repair mistakes made during DNA replication. The errors accumulate as the cells continue to divide, which may cause the cells to function abnormally, increasing the risk of tumor formation in the colon or another part of the body.

Some mutations in the PMS2 gene can 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 - increased risk from variations of the PMS2 gene

While Lynch syndrome is associated with a mutation in one copy of the PMS2 gene, very rarely, individuals in affected families inherit two PMS2 gene mutations, one from each parent. Most often in these cases, the same mutation occurs in both copies of the gene (a homozygous mutation). People with a homozygous PMS2 gene mutation have a syndrome distinct from Lynch syndrome. In addition to colorectal cancer, these individuals may develop cancers of the blood (leukemia or lymphoma). Some of these individuals will also develop characteristic features of a condition known as neurofibromatosis, including noncancerous tumors that grow along nerves (neurofibromas) and light brown patches of skin called café-au-lait spots. 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 5,970,925 to 6,009,106

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

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 5,970,925 to base pair 6,009,106 on chromosome 7.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about PMS2?

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

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

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

  • DNA mismatch repair gene homologue
  • HNPCC4
  • MLH4
  • PMS2CL
  • PMS2-C terminal -like
  • PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
  • PMSL2
  • postmeiotic segregation increased (S. cerevisiae) 2

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding PMS2?

cancer ; cell ; cell division ; colon ; colorectal ; DNA ; DNA replication ; duct ; endometrium ; gallbladder ; gene ; glioblastoma ; homozygous ; inherit ; intestine ; leukemia ; lymphoma ; mutation ; ovarian ; protein ; rectum ; segregation ; stomach ; syndrome ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • 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. Review. (
  • Gene Review: Lynch Syndrome (
  • 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. (
  • 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. (
  • Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003 Mar 6;348(10):919-32. Review. (
  • Marti TM, Kunz C, Fleck O. DNA mismatch repair and mutation avoidance pathways. J Cell Physiol. 2002 Apr;191(1):28-41. Review. (
  • 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. (
  • NCBI Gene (
  • Peltomäki P. Lynch syndrome genes. Fam Cancer. 2005;4(3):227-32. Review. (
  • 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. (
  • Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2. (
  • Truninger K, Menigatti M, Luz J, Russell A, Haider R, Gebbers JO, Bannwart F, Yurtsever H, Neuweiler J, Riehle HM, Cattaruzza MS, Heinimann K, Schär P, Jiricny J, Marra G. Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology. 2005 May;128(5):1160-71. (
  • Vaughn CP, Baker CL, Samowitz WS, Swensen JJ. The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. Genes Chromosomes Cancer. 2013 Jan;52(1):107-12. doi: 10.1002/gcc.22011. Epub 2012 Sep 25. (


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? ( in the Handbook.

Reviewed: May 2013
Published: February 1, 2016