Dados do Trabalho

Título

ANALYSIS OF THE RS 1130261 POLYMORPHISM OF THE HER-2 GENE IN PATIENTS WITH BREAST CANCER: CORRELATION BETWEEN GENETIC EVALUATIONS AND CLINICAL ASPECTS

Introdução

In women, breast cancer is the most common malignancy worldwide, being the leading cause of cancer death among women. Expression profile analyzes allow dividing breast cancer into 5 molecular subtypes: luminal A, luminal B, positive HER2, basal-like and normal-like, this classification being relevant for prognostic and predictive implications. Approximately 20-30% of breast cancers are HER2 positive. This type of cancer has a very aggressive clinical behavior and has a worse prognosis. HER 2 (Human Epidermal Growth Factor Receptor-type 2) is a transmembrane protein with tyrosine kinase activity, which is related to cell proliferation and migration. Thus, polymorphisms in the coding region of HER2 may be related to cancer risk or resistance. Therefore, the analysis of polymorphisms in search of new knowledge about breast cancer has become extremely relevant.

Objetivo

This study aimed to investigate the implications of the rs 1136201 genetic polymorphism of the HER-2 gene in relation to the clinical outcome and clinical-demographic characteristics of patients with breast cancer.

Método

An observational, descriptive and cross-sectional study was carried out with 45 women with breast cancer (case group) and 58 women without the disease (control group). The genetic material was obtained from DNA extraction from oral mucosa epithelial cells, amplified by polymerase chain reaction technique and genotyped by agarose gel electrophoresis.

Resultado

The rs 1136201 polymorphism played a protective role in heterozygosity (OR = 0.30) and dominantly (OR = 0.35) for breast cancer (p < 0.05).

Conclusão

Although the result was significant for the protective role of the rs 1136201 polymorphism of the HER-2 gene in breast cancer, we must recognize that it is of scientific interest to carry out studies with a larger number of cases for better confirmatory analysis.

Palavras-chave

Breast cancer. HER-2. Polymorphism. Ile655Val.