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CHEK2

Somatic tumors
Tumor types germline
breast
Cancer Syndrom
familial breast cancer
Translocation partner
Name
CHK2 checkpoint homolog (S. pombe)
Chromosome banding
22q12.1
Cancer molecular gen.
Rec
Mutation type
F
Other syndrome disease
Definition     No results

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CHEK2

In response to DNA damage and replication blocks, cell cycle progression is halted through the control of criticalcell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumorsuppressor. It contains a forkhead-associated protein interaction domain essential for activation in response toDNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, theencoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown tostabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this proteininteracts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in thisgene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associatedwith inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition tosarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily ofserine/threonine protein kinases. Several transcript variants encoding different isoforms have been found forthis gene. (provided by RefSeq, Apr 2012)

In response to DNA damage and replication blocks, cell cycle progression is halted through the control of criticalcell cycle regulators

The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumorsuppressor. It contains a forkhead-associated protein interaction domain essential for activation in response toDNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, theencoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown tostabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this proteininteracts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in thisgene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associatedwith inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition tosarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily ofserine/threonine protein kinases. Several transcript variants encoding different isoforms have been found forthis gene. (provided by RefSeq, Apr 2012)

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