Assessment of changes in the brca2 and p53 genes in breast invasive ductal carcinoma in northeast Brazil

• Main Authors: Eduardo AVF Ramalho, João LQ Silva-Filho, Marina FS Cartaxo, Carmelita BL Cavalcanti, Moacyr JBM Rêgo, Maria BM Oliveira, Eduardo IC Beltrão
• Format: Article
• Language: English
• Published: BMC 2014-01-01
• Series: Biological Research
• Subjects: Breast cancer; Epigenetics; Metastasis; Methylation; Polymorphism
• Online Access: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602014000100003&lng=en&tlng=en

BACKGROUND: BRCA protein interacts with at least 13 different proteins that have been implicated with cancer susceptibility and loss of BRCA function is correlated to sensitivity to DNA crosslinking agents in preclinical models. RESULTS: BRCA2 methylation frequency was 44%, p53 Pro22 allele frequency was 32% and heterozygous frequency of Arg/Pro72 genotype was 60% which could be associated as risk factor for metastasis (p = 0.046 OR = 4.190). Regarding to polymorphism of codon 249 the frequency of Arg249 allele presented 82% which was considered not statistically significant. CONCLUSIONS: There was not statistical significance to BRCA2 promoter methylation with any parameters chosen. However, our findings suggest that patients who present heterozygous genotype at codon 72 of p53 gene may have a major susceptibility to any type of metastasis and this could serve as potential auxiliary biomarker for poor prognosis.