Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.710 | GeneticVariation | BEFREE | We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. | 23371019 | 2013 |
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0.710 | GeneticVariation | BEFREE | We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. | 23371019 | 2013 |
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0.010 | GeneticVariation | BEFREE | Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma. | 30586141 | 2019 |
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0.010 | GeneticVariation | BEFREE | We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. | 23371019 | 2013 |
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0.010 | GeneticVariation | BEFREE | A novel germline mutation p.E88X, associated with hereditary melanoma in two unrelated families, is described. | 19523171 | 2009 |
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0.010 | GeneticVariation | BEFREE | Our data show that the p.G23S mutation is an important cause of hereditary melanoma in Tuscany. | 17992122 | 2007 |
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0.010 | GeneticVariation | BEFREE | This mutation (replacement of Arg24 by Cys) was first found in patients with hereditary melanoma and renders Cdk4 insensitive to INK4 inhibitors. | 11726500 | 2001 |