Familial melanoma

Gene: CHEK2

I don't know

Comment on list classification: While there is emerging evidence for association of CHEK2 variants with risk of melanoma (e.g., PMID: 42177185), there are several studies that did not find a significant association. Hence, this gene can only be rated Amber with the current evidence.

Created: 17 Jun 2026, 3:17 p.m. | Last Modified: 17 Jun 2026, 3:17 p.m.

Panel Version: 2.10

PMID: 32531112 Bui, LeBoeuf, & Nambudiri 2021
"For melanoma, one study has demonstrated a statistically significant twofold risk of melanoma in individuals with CHEK2 mutations, particularly the CHEK2*1100delC variant. Five other studies did not show an association."

PMID: 40283643 Terai et al. 2025
Cohort of patients with Metastatic Uveal Melanoma. Study reported ten patients with CHEK2 variants among 740 metastatic UM patients (1.4%) and four primary UM patients with CHEK2 germline mutations. Authors summarise that the role of CHEK2 in melanoma is not clear, but definitely warrants further investigation.

Created: 17 Jun 2026, 3:14 p.m. | Last Modified: 17 Jun 2026, 3:14 p.m.

Panel Version: 2.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265

Publications

• 32531112
• 40283643

I don't know

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: Literature

Created: 28 May 2026, 4:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mucosal melanoma

Publications

• PMID: 42177185