Mutational analysis of N-ras, p53, CDKN2A (p16), p14, CDK4, and MC1R genes in human dysplastic melanocytic naevi
نویسنده
چکیده
In order to detect possible dysplastic melanocytic naevi (DMN) associated melanoma risk factors and lesion specific differences in the mutation spectrum of dysplastic and congenital melanocytic naevi (CMN), we screened 19 specimens of human sporadic DMN derived from 19 patients for the presence of mutations in five genes, which we had investigated in a former study in 19 CMN and which have been reported to be associated with human cutaneous melanoma (N-ras, p53, CDKN2A, CDK4, and MC1R ).
منابع مشابه
Hypermethylation-associated Inactivation of p14 Is Independent of p16 Methylation and p53 Mutational Status
The INK4a/ARF locus encodes two cell cycle-regulatory proteins, p16 and p14, which share an exon using different reading frames. p14 antagonizes MDM2-dependent p53 degradation. However, no point mutations in p14 not altering p16 have been described in primary tumors. We report that p14 is epigenetically inactivated in several colorectal cell lines, and its expression is restored by treatment wi...
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BACKGROUND A 19-base pair germline deletion in exon 2 of the CDKN2A (cyclin-dependent kinase inhibitor 2A) gene (Leiden mutation) has been detected in Dutch families with familial melanomas. The penetrance of CDKN2A mutations varies widely and is influenced by environmental and unrelated genetic factors such as variants in the MC1R gene. OBSERVATIONS We describe a 25-year-old German woman who...
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The CDKN2A gene has been implicated in cutaneous malignant melanoma (CMM) in about 40% of families with linkage to chromosome 9p21, while a small proportion of families have mutations in the CDK4 gene. In order to estimate the importance of these genes in the predisposition to CMM in Spanish families and patients we have analysed, by SSCA, a total of 56 subjects belonging to 34 CMM families, an...
متن کاملThe inhibitor of cyclin-dependent kinase 4a/alternative reading frame (INK4a/ARF) locus encoded proteins p16INK4a and p19ARF repress cyclin D1 transcription through distinct cis elements.
The Ink4a/Arf locus encodes two structurally unrelated tumor suppressor proteins, p16(INK4a) and p14(ARF) (murine p19(ARF)). Invariant inactivation of either the p16(INK4a)-cyclin D/CDK-pRb pathway and/or p53-p14(ARF) pathway occurs in most human tumors. Cyclin D1 is frequently overexpressed in breast cancer cells contributing an alternate mechanism inactivating the p16(INK4a)/pRb pathway. Targ...
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The Ink4a/Arf locus encodes two structurally unrelated tumor suppressor proteins, p16 and p14 (murine p19). Invariant inactivation of either the p16-cyclin D/CDK-pRb pathway and/or p53-p14 pathway occurs in most human tumors. Cyclin D1 is frequently overexpressed in breast cancer cells contributing an alternate mechanism inactivating the p16/pRb pathway. Targeted overexpression of cyclin D1 to ...
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