Detection of Polymorphisms 213A→G and 13494G→A in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case Report

Abstract

Introduction: The characterization of molecular alterations in breast lesions suspicious for malignancy is not well defined. It is known that early detection of breast cancer greatly increases the chances of cure. Thus, it is required the survey for tumor markers may help establish an early diagnosis and confidently predict whether these lesions are benign or malignant. In the process of carcinogenesis, there are several changes in gene expression, which involves several key genes that control the cell cycle. Among the genes, TP53 has been widely studied for its mutations and variations, which may be involved in breast carcinogenesis. Case report: A female patient, aged 45, white, married, resident of the state of Rio de Janeiro with grade 2, multifocal Carcinoma Ductal in situ. Positive injury in estrogen and progesterone hormone receptors, with no somatic mutation and presence of variants 213^A→G and 13494^G→A in exon 6 and intron 6 of TP53. Conclusion: Although considered individually neutral, the synergistic effect of 213^A→G and 13494^G→A variants is still unknown.