Activity
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| Familial melanoma v2.10 | CHEK2 | Ida Ertmanska Classified gene: CHEK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.10 | CHEK2 | Ida Ertmanska Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.10 | CHEK2 | Ida Ertmanska Gene: chek2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.9 | CHEK2 | Ida Ertmanska Phenotypes for gene: CHEK2 were changed from Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 to Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265; mucosal melanoma, MONDO:0000544; uveal melanoma, MONDO:0006486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.8 | CHEK2 | Ida Ertmanska Phenotypes for gene: CHEK2 were changed from Mucosal melanoma to Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.7 | CHEK2 | Ida Ertmanska Publications for gene: CHEK2 were set to PMID: 42177185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.6 | CHEK2 | Ida Ertmanska Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial melanoma v2.5 | CHEK2 | Ida Ertmanska reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32531112, 40283643; Phenotypes: Tumor predisposition syndrome 4, breast/prostate/colorectal, OMIM:609265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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