Prostate cancer, hereditary: genes and variants

Genes linked to Prostate cancer, hereditary

• 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 ClinVar pathogenic / likely pathogenic and 48 uncertain variants in CHEK2 have source records linked to Prostate cancer, hereditary. Association strength is not clinical gene validity.

• 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 ClinVar pathogenic / likely pathogenic and 32 uncertain variants in PTEN have source records linked to Prostate cancer, hereditary. Association strength is not clinical gene validity.

• 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 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in BRCA2 have source records linked to Prostate cancer, hereditary. Association strength is not clinical gene validity.

• KRAS: GTPase KRas

  A small GTPase that acts as a molecular switch in the RAS-MAPK signaling pathway. By cycling between GDP- and GTP-bound states, it relays growth and survival signals, and activating KRAS variants are common drivers of cancer.

  0 ClinVar pathogenic / likely pathogenic and 17 uncertain variants in KRAS have source records linked to Prostate cancer, hereditary. Association strength is not clinical gene validity.

• BRAF: Serine/threonine-protein kinase B-raf

  It relays activated RAS signals through MEK and ERK to control proliferation, differentiation, and survival. Activating variants, especially V600E, drive melanoma and several other cancers and create sensitivity to pathway-directed therapies.

  0 ClinVar pathogenic / likely pathogenic and 14 uncertain variants in BRAF have source records linked to Prostate cancer, hereditary. Association strength is not clinical gene validity.

• TP53: Cellular tumor antigen p53

  It coordinates transcriptional responses to DNA damage and other cellular stresses, promoting cell-cycle arrest, senescence, DNA repair, or apoptosis when appropriate. Loss of this tumor-suppressive control is one of the most common events in cancer, while germline pathogenic variants cause Li-Fraumeni syndrome.

  0 ClinVar pathogenic / likely pathogenic and 14 uncertain variants in TP53 have source records linked to Prostate cancer, hereditary. Association strength is not clinical gene validity.

Weakly linked (only a few uncertain records): ABCC4, HRAS, AR, CD2, DNAJC6, KRT1, KRT9, NLRP1 and 1 more.

ClinVar pathogenic and likely pathogenic variants linked to Prostate cancer, hereditary

Same protein, different disease

• Hereditary breast cancer also has ClinVar records linked to CHEK2 variants; they fall mostly in different places as the Prostate cancer, hereditary variants (3 pathogenic / likely pathogenic).

Diseases related to Prostate cancer, hereditary

• Hereditary breast cancer, also linked to BRCA2, CHEK2, KRAS, PTEN and 1 more
• Hereditary breast ovarian cancer syndrome, also linked to BRCA2, CHEK2, KRAS and TP53
• Colorectal cancer, also linked to BRAF, CHEK2, KRAS and TP53
• Gastric cancer, also linked to CHEK2, KRAS and TP53
• Glioma susceptibility, also linked to BRCA2, PTEN and TP53
• Multiple myeloma, also linked to BRAF, KRAS and TP53
• Lung adenocarcinoma, also linked to BRAF, KRAS and TP53
• Prostate cancer, also linked to BRCA2, CHEK2 and PTEN
• Familial pancreatic carcinoma, also linked to BRCA2, KRAS and TP53
• RASopathy, also linked to BRAF and KRAS
• Li-Fraumeni syndrome, also linked to CHEK2 and TP53
• Noonan syndrome, also linked to BRAF and KRAS

Frequently asked questions

Which genes have records linked to Prostate cancer, hereditary?

This view contains 6 analyzed proteins: CHEK2, PTEN, BRCA2, KRAS, BRAF and 1 more. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.

What do the clinical classifications mean?

Linked records include 2 pathogenic or likely pathogenic variants, 111 variants of uncertain significance and 17 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.

Does the evidence score change a VUS classification?

No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.

Can I download the variant evidence?

Download the CSV for all 139 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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