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.178G>T(p.Val60Leu) | 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.247T>C(p.Ser83Pro) | 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.248C>T(p.Ser83Leu) | 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.252C>A(p.Asp84Glu) | 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.274G>A(p.Val92Met) | 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.332C>T(p.Ala111Val) | 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.451C>T(p.Arg151Cys) | 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 | |
MC1R:c.464T>C(p.Ile155Thr) | 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.478C>T(p.Arg160Trp) | 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.488G>A(p.Arg163Gln) | Penetrance | Altered incidence | OR=2.93; 95% CI: 1.16-7.35; P=0.04 | 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 |