Reviewed August 2007
What is the official name of the CHEK2 gene?
The official name of this gene is “checkpoint kinase 2.”
CHEK2 is the gene's official symbol. The CHEK2 gene is also known by other names, listed below.
What is the normal function of the CHEK2 gene?
The CHEK2 gene provides instructions for making a protein called checkpoint kinase 2 (CHK2). This protein acts as a tumor suppressor, which means that it regulates cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way.
The CHK2 protein is activated when DNA becomes damaged or when DNA strands break. DNA can be damaged by agents such as toxic chemicals, radiation, or ultraviolet (UV) rays from sunlight, and breaks in DNA strands also occur naturally when chromosomes exchange genetic material.
In response to DNA damage, the CHK2 protein interacts with several other proteins, including tumor protein 53 (which is produced from the TP53 gene). These proteins halt cell division and determine whether a cell will repair the damage or self-destruct in a controlled manner (undergo apoptosis). This process keeps cells with mutated or damaged DNA from dividing, which helps prevent the development of tumors.
How are changes in the CHEK2 gene related to health conditions?
- breast cancer - associated with the CHEK2 gene
Inherited mutations in the CHEK2 gene have been identified in some cases of breast cancer. For example, a specific change in this gene is associated with a moderately increased risk of breast cancer, particularly in European populations. This mutation is a deletion of a single DNA building block (nucleotide) at position 1100 in the CHEK2 gene (written as 1100delC). The 1100delC mutation leads to the production of an abnormally short, nonfunctional version of the CHK2 protein. Without this protein, cells are unable to regulate cell division properly. As a result, DNA damage accumulates and cells can divide without control or order. If cell division is not tightly controlled, cancerous tumors can develop.
- Li-Fraumeni syndrome - associated with the CHEK2 gene
Although most cases of Li-Fraumeni syndrome are associated with mutations in the TP53 gene, CHEK2 mutations have been identified in several families with cancers characteristic of this condition. The 1100delC mutation was identified in one of these families. Researchers are uncertain whether CHEK2 mutations actually cause Li-Fraumeni syndrome or are merely associated with an increased risk of several types of cancer, including those cancers often seen in Li-Fraumeni syndrome.
- other cancers - associated with the CHEK2 gene
Mutations in the CHEK2 gene have also been found in other hereditary and nonhereditary (sporadic) cancers affecting many of the body's organs and tissues. Although the full range of cancers associated with CHEK2 mutations has not been determined, studies have associated mutations in this gene with prostate, lung, colon, kidney, thyroid, and ovarian cancers. CHEK2 mutations have also been found in some brain tumors and in a type of bone cancer called osteosarcoma.
Where is the CHEK2 gene located?
Cytogenetic Location: 22q12.1
Molecular Location on chromosome 22: base pairs 29,083,730 to 29,137,821
The CHEK2 gene is located on the long (q) arm of chromosome 22 at position 12.1.
More precisely, the CHEK2 gene is located from base pair 29,083,730 to base pair 29,137,821 on chromosome 22.
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 CHEK2?
You and your healthcare professional may find the following resources about CHEK2 helpful.
Educational resources - Information pages
- Molecular Cell Biology (fourth edition, 2000): Proto-Oncogenes and Tumor-Suppressor Genes (http://www.ncbi.nlm.nih.gov/books/NBK21662/)
- National Cancer Institute: Genetics of Breast and Ovarian Cancer (http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page2)
- The Cell: A Molecular Approach (second edition, 2000): Tumor Suppressor Genes (http://www.ncbi.nlm.nih.gov/books/NBK9894/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1311/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CHEK2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=11200%5Bgeneid%5D)
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/pubmed?term=((CHEK2%5BTIAB%5D)%20OR%20(CHK2%20checkpoint%20homolog%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF (http://omim.org/entry/604373)
- COLORECTAL CANCER (http://omim.org/entry/114500)
- OSTEOGENIC SARCOMA (http://omim.org/entry/259500)
- PROSTATE CANCER (http://omim.org/entry/176807)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CHEK2.html)
- Cancer Genetics Web (http://www.cancerindex.org/geneweb/CHEK2.htm)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/11200)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=11200)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=16627)
What other names do people use for the CHEK2 gene or gene products?
- Cds1 kinase
- checkpoint-like protein CHK2
- CHK2 checkpoint homolog (S. pombe)
- Chk2 protein kinase
- hCds1 protein
- serine/threonine-protein kinase CHK2
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 CHEK2?
cell division ;
DNA damage ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Ahn J, Urist M, Prives C. The Chk2 protein kinase. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1039-47. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15279791?dopt=Abstract)
- Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science. 1999 Dec 24;286(5449):2528-31. (http://www.ncbi.nlm.nih.gov/pubmed/10617473?dopt=Abstract)
- CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004 Jun;74(6):1175-82. Epub 2004 Apr 30. (http://www.ncbi.nlm.nih.gov/pubmed/15122511?dopt=Abstract)
- Cybulski C, Górski B, Huzarski T, Masojć B, Mierzejewski M, Debniak T, Teodorczyk U, Byrski T, Gronwald J, Matyjasik J, Zlowocka E, Lenner M, Grabowska E, Nej K, Castaneda J, Medrek K, Szymańska A, Szymańska J, Kurzawski G, Suchy J, Oszurek O, Witek A, Narod SA, Lubiński J. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. 2004 Dec;75(6):1131-5. Epub 2004 Oct 18. (http://www.ncbi.nlm.nih.gov/pubmed/15492928?dopt=Abstract)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/11200)
- Kilpivaara O, Alhopuro P, Vahteristo P, Aaltonen LA, Nevanlinna H. CHEK2 I157T associates with familial and sporadic colorectal cancer. J Med Genet. 2006 Jul;43(7):e34. (http://www.ncbi.nlm.nih.gov/pubmed/16816021?dopt=Abstract)
- Mateus Pereira LH, Sigurdson AJ, Doody MM, Pineda MA, Alexander BH, Greene MH, Struewing JP. CHEK2:1100delC and female breast cancer in the United States. Int J Cancer. 2004 Nov 10;112(3):541-3. (http://www.ncbi.nlm.nih.gov/pubmed/15382084?dopt=Abstract)
- Nevanlinna H, Bartek J. The CHEK2 gene and inherited breast cancer susceptibility. Oncogene. 2006 Sep 25;25(43):5912-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16998506?dopt=Abstract)
- Sodha N, Houlston RS, Bullock S, Yuille MA, Chu C, Turner G, Eeles RA. Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome. Hum Mutat. 2002 Dec;20(6):460-2. (http://www.ncbi.nlm.nih.gov/pubmed/12442270?dopt=Abstract)
- Vahteristo P, Bartkova J, Eerola H, Syrjäkoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomäki K, Heikkilä P, Holli K, Blomqvist C, Bartek J, Kallioniemi OP, Nevanlinna H. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002 Aug;71(2):432-8. Epub 2002 Jul 28. (http://www.ncbi.nlm.nih.gov/pubmed/12094328?dopt=Abstract)
- Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA. 2006 Mar 22;295(12):1379-88. (http://www.ncbi.nlm.nih.gov/pubmed/16551709?dopt=Abstract)
- Wu X, Dong X, Liu W, Chen J. Characterization of CHEK2 mutations in prostate cancer. Hum Mutat. 2006 Aug;27(8):742-7. (http://www.ncbi.nlm.nih.gov/pubmed/16835864?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.