H3P10, H3 histone pseudogene 10, 115482713

N. diseases: 769; N. variants: 0
Disease: Hereditary Melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 GeneticVariation disease 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
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 Biomarker disease BEFREE Finally, the high rate of p16 mutations in squamous cell carcinomas and the association of p16 with familial melanoma propose p16 as an ideal candidate gene predisposing to familial squamous cell carcinomas. 16857415 2006
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 AlteredExpression disease BEFREE Little is known about the correlation between the loss of p16 expression and tumor progression in familial melanoma; no systematic study has been conducted on p16 expression in melanocytic tumors from patients carrying germline CDKN2A mutations. 14745721 2004
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 GeneticVariation disease BEFREE A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred. 15304098 2004
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 GeneticVariation disease BEFREE The p16 gene is frequently mutated in a variety of somatic tumors, as well as in familial melanoma and familial pancreatic carcinoma. 12352668 2002
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 AlteredExpression disease BEFREE This initial genetic evidence was subsequently strengthened by numerous studies documenting p16 inactivation in kindreds with familial melanoma. 11237522 2001
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 Biomarker disease BEFREE These recent advances open up the possibility of genetic testing for melanoma susceptibility in the setting of familial melanoma and suggest novel therapeutic strategies for melanoma based on gene therapy or small molecule mimicry targeted to the correction of defects in the p16 regulatory pathway.(J Am Acad Dermatol 2000;42:705-22.) 10775844 2000
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 GeneticVariation disease BEFREE In summary, our results show frequent involvement of the p16 gene in familial melanoma and confirm the role of the CDK4 gene as a melanoma-predisposing gene. 9425228 1998
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 Biomarker disease BEFREE The product of the p16/INK4a/CDKN2/MTS1 tumor-suppressor gene acts as a negative cell cycle regulator by inhibiting G1 cyclin-dependent kinases that phosphorylate the retinoblastoma protein. p16 is inactivated in a wide range of human malignancies, including familial melanoma. 9694617 1998
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 AlteredExpression disease BEFREE Moreover, a CDK4 gene mutation, responsible for a functional resistance of CDK4 kinase to p16 inhibitory activity, has been described to occur in some cases of familial melanoma. 9036865 1997
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 Biomarker disease BEFREE Germ-line mutations in the cyclin-dependent kinase (CDK) inhibitor p16 have been reported in a subset of melanoma pedigrees, but their prevalence is unknown in more common cases of familial melanoma that do not involve large families with multiple affected members. 8710906 1996
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 Biomarker disease BEFREE Recent work on the molecular genetics of familial melanoma has suggested that the p16 kinase inhibitor gene (CDKN2) is one of the genes causing familial melanoma. 8791272 1996
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 GeneticVariation disease BEFREE Germline p16 mutations in familial melanoma. 7987387 1994