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:
Variant:
34 
Reference:
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
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