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Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome

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, breas...

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Detalles Bibliográficos
Autores principales: Taja-Chayeb, Lucia, Vidal-Millán, Silvia, Gutiérrez-Hernández, Olga, Trejo-Becerril, Catalina, Pérez-Cárdenas, Enrique, Chávez-Blanco, Alma, de la Cruz-Hernández, Erick, Dueñas-González, Alfonso
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806269/
https://www.ncbi.nlm.nih.gov/pubmed/20017945
http://dx.doi.org/10.1186/1477-7819-7-97
Descripción
Sumario: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.