Familial melanoma
Gene: CHEK2
CHEK2 (checkpoint kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 10 panels
1 review
Riyaad Aungraheeta (Bristol Genetics Laboratory)
The CHEK2 c.1100delC variant was enriched in this retrospective cohort of mucosal melanoma patients compared to population controls (OR 6.7; 95% CI 1.8–17.5).
Sources: LiteratureCreated: 28 May 2026, 4:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mucosal melanoma
Publications
- PMID: 42177185
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Phenotypes
-
- Mucosal melanoma
- OMIM
- 604373
- Clinvar variants
- Variants in CHEK2
- Penetrance
- None
- Publications
-
- PMID: 42177185
- Panels with this gene
-
- Adult solid tumours for rare disease
- Familial breast cancer
- Familial melanoma
- GI tract tumours
- Familial prostate cancer
- Inherited breast cancer and ovarian cancer
- Adult solid tumours cancer susceptibility
- Inherited prostate cancer
- Inherited ovarian cancer (without breast cancer)
- Inherited predisposition to acute myeloid leukaemia (AML)
History Filter Activity
28 May 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Riyaad Aungraheeta (Bristol Genetics Laboratory)gene: CHEK2 was added gene: CHEK2 was added to Familial melanoma. Sources: Literature Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHEK2 were set to PMID: 42177185 Phenotypes for gene: CHEK2 were set to Mucosal melanoma Review for gene: CHEK2 was set to AMBER