CHEK2-related cancer predisposition: genes and variants
CHEK2-related cancer predisposition is linked to 1 analyzed protein (CHEK2). 3 DNA variants are known to cause it; 103 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to CHEK2-related cancer predisposition
CHEK2: Serine/threonine-protein kinase Chk2
It propagates DNA-damage checkpoint signals to proteins controlling cell-cycle arrest, repair, and apoptosis. Germline loss-of-function variants confer moderate cancer susceptibility, especially for breast cancer, while risk estimates depend on the specific allele and family context.
3 disease-causing and 103 uncertain variants in CHEK2 are linked to CHEK2-related cancer predisposition.
Known disease-causing variants in CHEK2-related cancer predisposition
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CHEK2 G167R | 167 | FHA | Disease-causing (★★) |
| CHEK2 R117G | 117 | FHA | Disease-causing (★★) |
| CHEK2 L236P | 236 | Protein kinase | Disease-causing (★★) |
Diseases related to CHEK2-related cancer predisposition
- Li-Fraumeni syndrome, also linked to CHEK2
- Familial cancer of breast, also linked to CHEK2
- Colorectal cancer, also linked to CHEK2
- Gastric cancer, also linked to CHEK2
- Hereditary nonpolyposis colon cancer, also linked to CHEK2
- Hereditary breast ovarian cancer syndrome, also linked to CHEK2
- Prostate cancer, also linked to CHEK2
- Breast and/or ovarian cancer, also linked to CHEK2
- Bone osteosarcoma, also linked to CHEK2
- Premature ovarian failure, also linked to CHEK2
- Lung carcinoma, also linked to CHEK2
- Familial prostate cancer, also linked to CHEK2
Frequently asked questions
Which genes are linked to CHEK2-related cancer predisposition?
In CATVariant, CHEK2-related cancer predisposition is linked to 1 analyzed protein: CHEK2 (Serine/threonine-protein kinase Chk2).
How many genetic variants are linked to CHEK2-related cancer predisposition?
109 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 103 are of uncertain significance or have conflicting reports.
Which uncertain variants in CHEK2-related cancer predisposition look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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