CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas.
J Invest Dermatol
; 111(2): 269-72, 1998 Aug.
Article
em En
| MEDLINE
| ID: mdl-9699728
ABSTRACT
We report six of 16 U.K. melanoma families and two of 17 patients with multiple primary melanomas and a negative family history who have between them four different functionally damaging mutations of the CDKN2A (p16) gene an Arg 24 Pro substitution in exon 1 in one family, a stop codon at codon 44 of exon 1 in one family, and a Met 53 Ile substitution in exon 2 in four families. One multiple primary melanoma patient also has the Met 53 Ile mutation and a second has a G-T substitution at the IVS2 + 1 splice donor site. Our data together with other recent publications from France and the U.S.A. indicate that screening melanoma kindreds with only two affected family members for CDKN2A mutations is justified.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação em Linhagem Germinativa
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Inibidor p16 de Quinase Dependente de Ciclina
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Melanoma
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Neoplasias Primárias Múltiplas
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
J Invest Dermatol
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Reino Unido