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Germline CDKN2A mutations are rare in child and adolescent cutaneous melanoma
- Source :
- Melanoma Research. 14:251-255
- Publication Year :
- 2004
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2004.
-
Abstract
- Early-onset melanoma under the age of 20 years is still a rare disease but has an increasing incidence. The aim of this study was to determine whether CDKN2A germline mutations are present in patients diagnosed with childhood/adolescent melanoma. From the Swedish Cancer Register we identified 60 patients with a diagnosis of cutaneous malignant melanoma before the age of 20 years. A medical history including information on self-reported melanoma heredity was obtained, a physical examination was performed by a dermatologist, and the histopathology slides were reviewed. A blood test was obtained for analysis of germline CDKN2A exon 1 and exon 2 mutations by DNA sequencing. We found only one germline CDKN2A mutation with functional significance, which was an exon 1 missense mutation resulting in a proline-to-leucine substitution in codon 48. This mutation was seen in a patient belonging to a previously reported kindred with hereditary melanoma where this particular germline CDKN2A mutation had been identified. Thus, in the large majority of cutaneous melanoma in childhood/adolescence, any underlying genetic alterations have yet to be identified.
- Subjects :
- Adult
Male
Oncology
Cancer Research
medicine.medical_specialty
Skin Neoplasms
Adolescent
Mutation, Missense
Dermatology
Germline
Germline mutation
CDKN2A
Internal medicine
medicine
Humans
Missense mutation
Age of Onset
Hereditary Melanoma
Melanoma
neoplasms
Cyclin-Dependent Kinase Inhibitor p16
Germ-Line Mutation
Neoplasm Staging
business.industry
Cancer
Exons
medicine.disease
Child, Preschool
Cutaneous melanoma
Cancer research
Female
business
Subjects
Details
- ISSN :
- 09608931
- Volume :
- 14
- Database :
- OpenAIRE
- Journal :
- Melanoma Research
- Accession number :
- edsair.doi.dedup.....6e6df6886ecd6bd50084163b80114760