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FLASH GENE
Symbol CHEK2 contributors: mct/pgu - updated : 30-05-2017
HGNC name CHK2 checkpoint homolog (S. pombe)
HGNC id 16627
ASSOCIATED DISORDERS
corresponding disease(s) LFS2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral germinal mutation      
in prostate cancer
tumoral germinal mutation      
I157T missense mutation increases the risk of colorectal cancer , but the truncating mutations may confer a lower risk or no increase in risk
tumoral germinal mutation     loss of function
in patients with primary ovarian, fallopian tube, or peritoneal cancers
Susceptibility
  • sarcoma, breast and prostate cancer, brain tumor, colon carcinoma (minor role), lung cancer
  • to risks of breast cancer
  • Variant & Polymorphism insertion/deletion , other
  • variant 1100delC increased in breast cancer
  • missense variant 1157T associated with increased risk of breast, colon, prostate, kidney, thyroid cancer
  • a large deletion associated to increased risk of cancer of prostate
  • (T/C) genotype was associated with a highly significantly lower incidence of lung cancer, with much greater absolute risk reduction in smokers than in non-smokers
  • risks of breast cancer associated with CHEK2 p.I157T and CHEK2 p.S428F are increased
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    dual inactivation of CHEK2 and MUS81 remarkably inhibits cancer
    ANIMAL & CELL MODELS
    CHK2 deficient mouse embryonic cells