Investigação de variantes no gene Brca1 em pacientes com suspeita de câncer de mama hereditário atendidos em Manaus AM

Abstract

Cancer is a genetic disease that involves multiple factors that lead to its formation. considered one of the main diseases of today. The type of cancer that most affects the female population is breast cancer (BC), which, in addition to having a high mortality rate, is also able to It is also capable of generating physical and psychological sequels which are difficult to recover from. One of the risk factors for this type of cancer is family history, which increases the chances of chances of involvement at early ages, being strongly related to the occurrence of mutations in predisposition genes. The BRCA1 gene is the main responsible for cases of hereditary hereditary breast cancer. The identification of mutations in this gene can provide epidemiological data epidemiological data on the profile of hereditary breast cancer cases in a region. In the Region, however, there is still no significant information on this topic. Thus, the aim of this study was to investigate the variants present in five regions of the BRCA1 gene in individuals with suspected hereditary breast cancer. A total of 48 participants were selected for this study. Genomic DNA extraction was performed, followed by After PCR, the samples were purified with PEG 8000. The sequencing reaction was carried out with the BigDye Kit and the reading of the sequences was performed in the ABI 3130XL sequencer. The sequences obtained were read in the BioEdit program. No mutations were identified in the studied regions. It is suggested that further studies should be complete sequencing of the BRCA1 gene, as well as studies involving other genes involved in breast cancer predisposition. Keywords: genetic diseases, SNVs, tumor suppressor gene, heredity.