Abstract
Atypical mole syndrome is a sporadic or an inherited condition with an increased risk of melanoma. Germline mutations in the CDKN2A, ARF, CDK4 and somatic mutations in the PTEN and BRAF genes have been associated with melanoma. In this study, we evaluated genes associated with familial and sporadic melanoma for mutations in 28 probands with the atypical mole syndrome. No sequence alterations in the coding regions or in the splice junctions of CDKN2A, ARF, CDK4, PTEN or BRAF were identified. These data suggest that genes evaluated in this study are unlikely to be candidate genes for atypical mole syndrome and support the notion that unknown susceptibility gene/s for this disease exist.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Aged, 80 and over
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Child, Preschool
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Cohort Studies
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Cyclin-Dependent Kinase 4
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Cyclin-Dependent Kinases / genetics
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Dysplastic Nevus Syndrome / genetics*
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Female
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Genes, p16
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Germ-Line Mutation / genetics*
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Humans
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Male
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Melanoma / genetics*
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Middle Aged*
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PTEN Phosphohydrolase
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Pedigree
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Phosphoric Monoester Hydrolases / genetics
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Proto-Oncogene Proteins / genetics
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Proto-Oncogene Proteins B-raf / genetics
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Skin Neoplasms / genetics*
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Tumor Suppressor Protein p14ARF / genetics
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Tumor Suppressor Proteins / genetics
Substances
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Proto-Oncogene Proteins
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Tumor Suppressor Protein p14ARF
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Tumor Suppressor Proteins
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BRAF protein, human
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Proto-Oncogene Proteins B-raf
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CDK4 protein, human
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Cyclin-Dependent Kinase 4
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Cyclin-Dependent Kinases
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Phosphoric Monoester Hydrolases
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PTEN Phosphohydrolase
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PTEN protein, human