Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome.
World J Surg Oncol
; 7: 97, 2009 Dec 17.
Article
em En
| MEDLINE
| ID: mdl-20017945
ABSTRACT
BACKGROUND:
Germ-line mutations of the TP53 gene are known to cause Li-Fraumeni syndrome, an autosomal, dominantly inherited, high-penetrance cancer-predisposition syndrome characterized by the occurrence of a variety of cancers, mainly soft tissue sarcomas, adrenocortical carcinoma, leukemia, breast cancer, and brain tumors.METHODS:
Mutation analysis was based on Denaturing high performance liquid chromatography (DHPLC) screening of exons 2-11 of the TP53 gene, sequencing, and cloning of DNA obtained from peripheral blood lymphocytes.RESULTS:
We report herein on Li Fraumeni syndrome in a family whose members are carriers of a novel TP53 gene mutation at exon 4. The mutation comprises an insertion/duplication of seven nucleotides affecting codon 110 and generating a new nucleotide sequence and a premature stop codon at position 150. With this mutation, the p53 protein that should be translated lacks the majority of the DNA binding domain.CONCLUSION:
To our knowledge, this specific alteration has not been reported previously, but we believe it is the cause of the Li-Fraumeni syndrome in this family.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteína Supressora de Tumor p53
/
Síndrome de Li-Fraumeni
/
Mutação em Linhagem Germinativa
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Mexico
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article