[From gene to disease; from p16 to melanoma]. / Van gen naar ziekte; van p16 naar melanoom.
Ned Tijdschr Geneeskd
; 144(44): 2100-2, 2000 Oct 28.
Article
em Nl
| MEDLINE
| ID: mdl-11103670
ABSTRACT
Approximately 10% of human cutaneous melanoma cases occur in families with the familial atypical multiple mole melanoma (FAMMM) syndrome, which is characterised by the familial occurrence of melanomas and atypical precursor naevi. A melanoma-associated gene has been mapped to 9p2l, encoding for the tumour suppressor gene CDKN2A. Worldwide, germline mutations in melanoma kindreds implicate this cell cycle regulator (p16) as a susceptibility gene for malignant melanoma. Most FAMMM families registered at the Leiden Pigmented Lesions Clinic share the same CDKN2A inactivating deletion (P16-Leiden). Presymptomatic DNA diagnosis will now be available for P16-Leiden positive FAMMM family members at the Leiden University Medical Centre.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
/
Síndrome do Nevo Displásico
/
Genes p16
/
Inibidor p16 de Quinase Dependente de Ciclina
/
Melanoma
/
Mutação
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
Nl
Revista:
Ned Tijdschr Geneeskd
Ano de publicação:
2000
Tipo de documento:
Article