IJS | International Journal of Sciences
ISSN 2763-5392
DOI: 10.29327/229003
Volume 7, Número 1, Ano: 2025,
ISSN: 2763-5392
Author(s): Venancio, D. B. R.; Neto, J. C. S.; Felix, P.T.
Abstract: Breast cancer is a multifactorial disease, linked to environmental factors, lifestyle habits, the aging process, other hormonal factors, and clinical history. Although it predominantly affects women, it can also affect men, albeit to a lesser extent. Among the genetic factors, mutations in the BRCA1 and BRC2 genes stand out, which can have mutations and exponentially increase the risk of developing the disease. Therefore, this study aims to gather scientific data on these genes from the literature to contribute to discussions about screening through them. To this end, LILACS, Google Scholar, and PubMed were used , using the keywords "breast cancer," "BRCA1," "BRCA2," and "screening," combined with the Boolean operators AND and OR, without time restrictions. Relevant studies in the field were selected. In addition to genetic testing, a variety of alternative approaches can contribute to cancer screening. Among these, we can mention tumor biomarkers, such as hormone receptors, HER2, serum markers (such as CA15 and CEA), Ki-67, and circulating tumor cells. However, these biomarkers have limitations, making it impossible to define exact parameters or provide a reliable margin for cancer diagnosis. However, identifying mutations in the BRCA1 and BRCA2 genes is highly effective. Studies show that this is an effective strategy for breast cancer screening, contributing to a better patient prognosis. However, incorporating this method requires the joint action of a multidisciplinary team, technological resources, and support. psychological. Furthermore, it is important to follow steps that contribute to the effectiveness of screening, such as pre-test genetic counseling, which clarifies the clinical implications based on the patient's results. Patients with gene mutations should be directed to personalized strategies, such as annual MRI between the ages of 25 and 29, and in conjunction with mammography from age 30 onward. Prophylactic measures include reduction mastectomy, which reduces the risk by up to 90%, and salpingo-oophorectomy , which significantly reduces the risk of ovarian cancer. Screening first-degree relatives also involves more participants and makes screening more widespread, as first-degree relatives are also more likely to have the genetic mutation. It is concluded that the BRCA1 and BRCA2 genes provide essential tools in breast cancer screening, enabling early diagnosis, the adoption of prophylactic measures, and the targeting of more effective therapies, contributing to the reduction of morbidity and mortality associated with the disease.
Author(s): Venancio, D.B.R.; Ramos, R.S.; .; Filho, C.B.N.; Paulino, A.J.; Felix, P.T.
Abstract: In this work, we evaluated the levels of genetic diversity in 38 complete genomes of SARS-CoV-2, publicly available on the National Center for Biotechnology Information (NCBI) platform and from six countries in South America (Brazil, Chile, Peru, Colombia, Uruguay and Venezuela with 16, 11, 1, 1, 1, 7 haplotypes, respectively), all with an extension of 29,906 bp and Phred values ≥ 40. These haplotypes were previously used for phylogenetic analyses, following the alignment protocols of the MEGA X software; where all gaps and unconserved sites were extracted for the construction of phylogenetic trees. The specific methodologies for Paired FST estimators, Molecular Variance (AMOVA), Genetic Distance, mismatch, demographic and spatial expansion analyses, molecular diversity and evolutionary divergence time analyses, were obtained using 20,000 random permutation.
