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An intronic variant in the TP53 gene in a Brazilian woman with breast cancer.

Authors :
Lacerda LL
Serrano SV
Mathes A
Rey JA
Bello MJ
Casartelli C
Source :
Cancer genetics and cytogenetics [Cancer Genet Cytogenet] 2005 Jul 15; Vol. 160 (2), pp. 160-3.
Publication Year :
2005

Abstract

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.

Details

Language :
English
ISSN :
0165-4608
Volume :
160
Issue :
2
Database :
MEDLINE
Journal :
Cancer genetics and cytogenetics
Publication Type :
Academic Journal
Accession number :
15993272
Full Text :
https://doi.org/10.1016/j.cancergencyto.2004.11.014