Navegando por Autor "Burbano, Rommel Mario Rodríguez"
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Artigo Identification of variants (rs11571707, rs144848, and rs11571769) in the BRCA2 gene associated with hereditary breast cancer in indigenous populations of the brazilian Amazon(MDPI AG, 2021-01-22) Dobbin, Elizabeth Ayres Fragoso; Medeiros, Jéssyca Amanda Gomes; Costa, Marta Solange Camarinha Ramos; Rodrigues, Juliana Carla Gomes; Guerreiro, João Farias; Kroll, José Eduardo; Souza, Sandro José de; Assumpção, Paulo Pimentel de; Ribeiro-dos-Santos, Ândrea; Santos, Sidney Emanuel Batista dos; Burbano, Rommel Mario Rodríguez; Fernandes, Marianne Rodrigues; Santos, Ney Pereira Carneiro dosEstimates show that 5–10% of breast cancer cases are hereditary, caused by genetic variants in autosomal dominant genes; of these, 16% are due to germline mutations in the BRCA1 and BRCA2 genes. The comprehension of the mutation profile of these genes in the Brazilian population, particularly in Amazonian Amerindian groups, is scarce. We investigated fifteen polymorphisms in the BRCA1 and BRCA2 genes in Amazonian Amerindians and compared the results with the findings of global populations publicly available in the 1000 Genomes Project database. Our study shows that three variants (rs11571769, rs144848, and rs11571707) of the BRCA2 gene, commonly associated with hereditary breast cancer, had a significantly higher allele frequency in the Amazonian Amerindian individuals in comparison with the African, American, European, and Asian groups analyzed. These data outline the singular genetic profiles of the indigenous population from the Brazilian Amazon region. The knowledge about BRCA1 and BRCA2 variants is critical to establish public policies for hereditary breast cancer screening in Amerindian groups and populations admixed with them, such as the Brazilian populationArtigo Incidence of hereditary gastric cancer may be much higher than reported(MDPI AG, 2022-12) Assumpção, Paula Baraúna de; Assumpção, Paulo Pimentel de; Moreira, Fabiano Cordeiro; Santos, Andrea Kely Campos Ribeiro dos; Vidal, Amanda Ferreira; Magalhães, Leandro; Khayat, André Salim; Santos, André Mauricio Ribeiro dos; Cavalcante, Giovanna Chaves; Pereira, Adenilson Leão; Medeiros, Inácio Gomes; Souza, Sandro José de; Burbano, Rommel Mario Rodríguez; Souza, Jorge Estefano Santana de; Santos, Sidney Emanuel Batista dosHereditary gastric cancers (HGCs) are supposed to be rare and difficult to identify. Nonetheless, many cases of young patients with gastric cancer (GC) fulfill the clinical criteria for considering this diagnosis but do not present the defined pathogenic mutations necessary to meet a formal diagnosis of HGC. Moreover, GC in young people is a challenging medical situation due to the usual aggressiveness of such cases and the potential risk for their relatives when related to a germline variant. Aiming to identify additional germline alterations that might contribute to the early onset of GC, a complete exome sequence of blood samples from 95 GC patients under 50 and 94 blood samples from non-cancer patients was performed and compared in this study. The number of identified germline mutations in GC patients was found to be much higher than that from individuals without a cancer diagnosis. Specifically, the number of high functional impact mutations, including those affecting genes involved in medical diseases, cancer hallmark genes, and DNA replication and repair processes, was much higher, strengthening the hypothesis of the potential causal role of such mutations in hereditary cancers. Conversely, classically related HGC mutations were not found and the number of mutations in genes in the CDH1 pathway was not found to be relevant among the young GC patients, reinforcing the hypothesis that existing alternative germline contributions favor the early onset of GC. The LILRB1 gene variants, absent in the world's cancer datasets but present in high frequencies among the studied GC patients, may represent essential cancer variants specific to the Amerindian ancestry's contributions. Identifying non-reported GC variants, potentially originating from under-studied populations, may pave the way for additional discoveries and translations to clinical interventions for GC management. The newly proposed approaches may reduce the discrepancy between clinically suspected and molecularly proven hereditary GC and shed light on similar inconsistencies among other cancer types. Additionally, the results of this study may support the development of new blood tests for evaluating cancer risk that can be used in clinical practice, helping physicians make decisions about strategies for surveillance and risk-reduction interventions