Description:
MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2
CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
CDKN2A |
| Chromosomal Location |
9p21 |
| Allelic Variant 1 |
R58X; MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2 |
| Identified Mutation |
ARG58TER |
| Remarks |
Five primary melanomas; multiple pigmented dysplastic nevi; similarly affected mother and uncle; donor subject has a nonsense mutation at codon 58 (CGA to TGA) of the CDKN2A (p16) gene which results in a stop codon in place of arginine [ARG58TER (R58X)]. |
| Hussussian CJ, Struewing JP, Goldstein AM, Higgins PA, Ally DS, Sheahan MD, Clark WH, Tucker MA, Dracopoli NC, Germline p16 mutations in familial melanoma. Nat Genet8(1):15-21 1994 |
| PubMed ID: 7987387 |
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