An intronic variant in the TP53 gene in a Brazilian woman with breast cancer.
We screened the TP53 gene for mutational status in 40 breast tumor cases by polymerase chain reaction, single-strand conformational polymorphism, and gene sequencing. Many mutations of this gene have been described in specific databases. In our study, a new T-->C point mutation was identified in intron 6 at position 13989 in a grade III medullary ductal carcinoma. Other variations in intron 6 have been described in patients with Li-Fraumeni syndrome. One of these variations was reported to inhibit apoptosis and prolong cell survival, thereby increasing breast cancer risk. Nevertheless, more studies are necessary to establish whether this mutation has a role in breast cancer risk.
Lacerda
Leandra Linhares
LL
Departamento de Genética, Faculdade de Medicina de Ribeirão Preto-Universidade de São Paulo, Av. Bandeirantes 3900, Monte Allegre, 14049-900 Ribeirão Preto-São Paulo, Brazil. leandra@ioc.fiocruz.br
Serrano
Sergio Vicente
SV
Mathes
Angelo
A
Rey
Juan A
JA
Bello
Maria Josefa
MJ
Casartelli
Cacilda
C
D001483:Base Sequence; D001938:Brazil; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
D016159:Tumor Suppressor Protein p53