CHEK2-related cancer predisposition
MONDO:0700271Mondo
Findings
No curated finding names CHEK2-related cancer predisposition yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.
Definition from the Mondo Disease Ontology (MONDO:0700271), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CHEK2HGNC:16627
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2024
Where it sits
- A kind of