Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome
Por:
Taja-Chayeb L., Vidal-Millán S., Gutiérrez-Hernández O., Trejo-Becerril C., Pérez-Cárdenas E., Chávez-Blanco A., de la Cruz-Hernández E., Duenas-Gonzalez, A
Publicada:
17 dic 2009
Resumen:
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 a
Filiaciones:
Taja-Chayeb L.:
Instituto Nacional de Cancerología (INCan), Mexico City, Mexico
Vidal-Millán S.:
Instituto Nacional de Cancerología (INCan), Mexico City, Mexico
Gutiérrez-Hernández O.:
Instituto Nacional de Cancerología (INCan), Mexico City, Mexico
Trejo-Becerril C.:
Instituto Nacional de Cancerología (INCan), Mexico City, Mexico
Pérez-Cárdenas E.:
Instituto Nacional de Cancerología (INCan), Mexico City, Mexico
Chávez-Blanco A.:
Instituto Nacional de Cancerología (INCan), Mexico City, Mexico
de la Cruz-Hernández E.:
Instituto Nacional de Cancerología (INCan), Mexico City, Mexico
Duenas-Gonzalez, A:
Univ Nacl Autonoma Mexico, IIB, Unidad Invest Biomed Canc, Mexico City 04510, DF, Mexico
Gold
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