Disorder "Melanoma"
Found 34 records
Disorder information
Disorder name:
Melanoma
Disoder ID:
Definition:
The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).
Modifier statisitcs
Record:
34
Gene:
3
Variant:
34
Reference:
3
Effect type:
Penetrance(20)
,Expressivity(14)
Modifier effect:
Altered incidence(14)
,Risk factor(14)
,Prevention of disease(6)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| MC1R | MC1R:c.586T>C(p.Phe196Leu) | Penetrance | Altered incidence | Pooled RHC variants increased also significantly CDKN2A penetrance (OR=2.30; 95% CI 1.15-4.59; P=0.02). | Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigreesmore | more |
| MC1R:c.792C>T(p.Ile264Ile) | Penetrance | Altered incidence | Pooled RHC variants increased also significantly CDKN2A penetrance (OR=2.30; 95% CI 1.15-4.59; P=0.02). | Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigreesmore | more | |
| MC1R:c.880G>C(p.Asp294His) | Penetrance | Altered incidence | OR=3.58; 95% CI: 1.49-8.60; P=0.01 | Two of the seven common MC1R variants (frequency ≥5% in the family sample) significantly increased CMM risk in carriers of CDKN2A mutations: D294H (OR of hazard function, 3.58; 95% CI, 1.49-8.60; P=0.01) and R163Q (OR, 2.93; 95% CI, 1.16-7.35; P=0.04).Pooled RHC variants increased also significantly CDKN2A penetrance (OR, 2.30; 95% CI, 1.15-4.59; P=0.02)more | more | |
| MC1R:c.942A>G(p.Thr314Thr) | Penetrance | Altered incidence | P<0.05 | A significantly higher frequency of R151C, D294H, and T314T variants in family members than in controls (P < 0.05). Pooled RHC variants increased also significantly CDKN2A penetrance (OR, 2.30; 95% CI, 1.15-4.59; P=0.02)more | more | |
| GSTP1 | GSTP1:p.Val114/Val114 | Penetrance | Prevention of disease | Pedigree analysis | Improve the risk of melanomamore | more |
| GSTP1:p.Ile105Val | Penetrance | Prevention of disease | Pedigree analysis | Improve the risk of melanomamore | more | |
| CDKN2A | CDKN2A:19ins6 | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more |
| CDKN2A:c.159G>C(p.Met53Ile) | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more | |
| CDKN2A:c.167G>A(p.Ser56Asn) | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more | |
| CDKN2A:c.176T>A(p.Val59Glu) | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more |