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Familial melanoma v2.5 CHEK2 Riyaad Aungraheeta 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
Added comment: 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