CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: Cutaneous Melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE The authors describe eight families with the FAMMM-pancreatic carcinoma (FAMMM-PC) association in concert with a CDKN2A germline mutation. 11815963 2002
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 Biomarker disease BEFREE It is known that the pRb pathway cell-cycle inhibitor p16(INK4A) plays a significant role in cutaneous melanoma and that alteration of p16(INK4A), which resides within the 9p21-22 locus that also contains p15(INK4B) and p14(ARF), may occur in up to one third of uveal melanomas. 12202501 2002
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE We analyzed 80 families with documented CDKN2A mutations and multiple cases of cutaneous melanoma. 12072543 2002
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE Germline mutations in CDKN2A have been linked to development of cutaneous melanoma in some families with hereditary melanoma. 12175554 2002
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE Significant impact of promoter hypermethylation and the 540 C>T polymorphism of CDKN2A in cutaneous melanoma of the vertical growth phase. 12107107 2002
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 Biomarker disease BEFREE The functional relationship between INK4a/ARF and UV radiation in the pathogenesis of CMM is largely unknown. 12438273 2002
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE Evidence for comorbid OM and CM exists in patients with strong phenotypic expression of atypical nevi and conjunctival melanoma, although CDKN2A mutations have not been documented in patients with OM. 12925397 2003
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE Although mutations in two genes, CDKN2A and CDK4, have been shown to confer an increased risk of CMM, they account for only 20%-25% of families with multiple cases of CMM. 12844286 2003
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 Biomarker disease BEFREE The dual inactivation of p16(INK4a) and p14(ARF) may contribute to the CMM in these families. 12853981 2003
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE Germline variants in the melanocortin 1 receptor gene (MC1R) and the p16 gene (CDKN2A) are associated with an increased risk of cutaneous melanoma. 12883368 2003
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE We report a Gly67Ser missense CDKN2A germline mutation in a melanoma-prone family, where one carrier was affected by UM and the other by a CM. 14506702 2003
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE Germline CDKN2A mutations are rare in child and adolescent cutaneous melanoma. 15305154 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE So far the mutation 113insArg explains all CDKN2A-associated CMM in ethnic Swedes. 15030338 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 AlteredExpression disease BEFREE In order to clarify the importance of p16 alterations in melanoma, we examined the deletions of p16INK4a and expression of p16 protein in eight unselected primary and metastatic melanoma cell lines from human skin melanomas. 14719109 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families. 16307646 2005
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE Our results point to homozygous deletions in the INK4 region as being one of the most common genetic alterations in malignant cutaneous melanoma. 15837753 2005
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE We performed a genome-wide scan of two Danish pedigrees with multiple cases of OMM (N = 10) and CMM (N = 3) and other malignancies (with no germline mutations in CDKN2A, CDK4, BRCA1, and BRCA2) to identify melanoma susceptibility genes. 16174859 2005
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE Germline CDKN2A mutations among Greek patients with early-onset and multiple primary cutaneous melanoma. 16374456 2006
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study. 16896043 2006
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 AlteredExpression disease BEFREE MIB-1 and p16 expression were analyzed by immunohistochemistry in 64 patients with primary cutaneous melanoma.Thirty four nevi were used as control. 16331607 2006
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families. 17167857 2006
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE Germline mutations in the tumor suppressor gene CDKN2A have been shown to predispose to cutaneous malignant melanoma. 17171691 2007
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE CDKN2A germline mutations in individuals with cutaneous malignant melanoma. 17218939 2007
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE Germline mutations in the CDKN2A gene have been shown to predispose individuals to cutaneous malignant melanoma. 17492760 2007
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GeneticVariation disease BEFREE BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma. 17624602 2007