Familial prostate cancer: genes and variants
Familial prostate cancer is linked to 3 analyzed proteins (CHEK2, PTEN and BRCA2). 2 DNA variants are known to cause it; 50 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 Familial prostate cancer
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.
2 disease-causing and 48 uncertain variants in CHEK2 are linked to Familial prostate cancer.
PTEN: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
A lipid and protein phosphatase that removes phosphate groups from signaling molecules, especially PIP3. By opposing the PI3K-AKT pathway, it limits cell growth and survival signals, and PTEN variants are associated with Cowden syndrome and multiple cancers.
0 disease-causing and 2 uncertain variants in PTEN are linked to Familial prostate cancer.
BRCA2: Breast cancer type 2 susceptibility protein
It loads RAD51 onto damaged DNA to enable homologous recombination and also protects stressed replication forks from degradation. Germline loss-of-function variants strongly predispose to breast, ovarian, prostate, pancreatic, and other cancers.
0 disease-causing and 0 uncertain variants in BRCA2 are linked to Familial prostate cancer.
Weakly linked (only a few uncertain records): ABCC4, CD2, DNAJC6, KRT1, KRT9 and NLRP1.
Known disease-causing variants in Familial prostate cancer
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CHEK2 R117G | 117 | FHA | Disease-causing (★★) |
| CHEK2 L236P | 236 | Protein kinase | Disease-causing (★★) |
Same protein, different disease
- Familial cancer of breast is also caused by CHEK2 variants; they fall mostly in different places as the Familial prostate cancer variants (3 disease-causing).
Diseases related to Familial prostate cancer
- Prostate cancer, also linked to BRCA2, CHEK2 and PTEN
- Familial cancer of breast, also linked to CHEK2 and PTEN
- Glioma susceptibility 1, also linked to BRCA2 and PTEN
- Hereditary breast ovarian cancer syndrome, also linked to BRCA2 and CHEK2
- Li-Fraumeni syndrome, also linked to CHEK2
- PTEN hamartoma tumor syndrome, also linked to PTEN
- Cowden syndrome, also linked to PTEN
- Ovarian cancer, also linked to BRCA2
- Fanconi anemia, also linked to BRCA2
- Colorectal cancer, also linked to CHEK2
- Gastric cancer, also linked to CHEK2
- Breast-ovarian cancer, familial, susceptibility to, 1, also linked to BRCA2
Frequently asked questions
Which genes are linked to Familial prostate cancer?
In CATVariant, Familial prostate cancer is linked to 3 analyzed proteins: CHEK2 (Serine/threonine-protein kinase Chk2), PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN) and BRCA2 (Breast cancer type 2 susceptibility protein).
How many genetic variants are linked to Familial prostate cancer?
60 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 50 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial prostate cancer 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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