Navegando por Autor "MORAES, Milene Raiol de"

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Acesso aberto (Open Access)
CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)
(Universidade Federal do Pará, 2016-06) EL HUSNY, Antonette Souto; MORAES, Milene Raiol de; AMADOR, Marcos Antônio Trindade; SANTOS, André Maurício Ribeiro dos; MONTAGNINI, Andre Luis; BARBOSA, Maria Silvanira Ribeiro; SILVA, Artur Luiz da Costa da; ASSUMPÇÃO, Paulo Pimentel de; ISHAK, Geraldo; SANTOS, Sidney Emanuel Batista dos; PINTO, Pablo Diego do Carmo; CRUZ, Aline Maria Pereira; SANTOS, Ândrea Kely Campos Ribeiro dos
Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report a higher number of sporadic cases, but there are only a few local studies related to hereditary cases of gastric cancer in Brazil to confirm this fact. CDH1 germline mutations have been described both in familial and sporadic cases, but there is only one recent molecular description of individuals from Brazil. In this study we performed Next Generation Sequencing (NGS) to assess CDH1 germline mutations in individuals who match the clinical criteria for Hereditary Diffuse Gastric Cancer (HDGC), or who exhibit very early diagnosis of gastric cancer. Among five probands we detected CDH1 germline mutations in two cases (40%). The mutation c.1023T > G was found in a HDGC family and the mutation c.1849G > A, which is nearly exclusive to African populations, was found in an early-onset case of gastric adenocarcinoma. The mutations described highlight the existence of gastric cancer cases caused by CDH1 germline mutations in northern Brazil, although such information is frequently ignored due to the existence of a large number of environmental factors locally. Our report represent the first CDH1 mutations in HDGC described from Brazil by an NGS platform.
Acesso aberto (Open Access)
Human aging and somatic point mutations in mtDNA: a comparative study of generational differences (grandparents and grandchildren)
(2011) MARINHO, Anderson Nonato do Rosario; MORAES, Milene Raiol de; SANTOS, Sidney Emanuel Batista dos; SANTOS, Ândrea Kely Campos Ribeiro dos
The accumulation of somatic mutations in mtDNA is correlated with aging. In this work, we sought to identify somatic mutations in the HVS-1 region (D-loop) of mtDNA that might be associated with aging. For this, we compared 31 grandmothers (mean age: 63 ± 2.3 years) and their 62 grandchildren (mean age: 15 ± 4.1 years), the offspring of their daughters. Direct DNA sequencing showed that mutations absent in the grandchildren were detected in a presumably homoplasmic state in three grandmothers and in a heteroplasmic state in an additional 13 grandmothers; no mutations were detected in the remaining 15 grandmothers. However, cloning followed by DNA sequencing in 12 grandmothers confirmed homoplasia in only one of the three mutations previously considered to be homoplasmic and did not confirm heteroplasmy in three out of nine grandmothers found to be heteroplasmic by direct sequencing. Thus, of 12 grandmothers in whom mtDNA was analyzed by cloning, eight were heteroplasmic for mutations not detected in their grandchildren. In this study, the use of genetically related subjects allowed us to demonstrate the occurrence of age-related (> 60 years old) mutations (homoplasia and heteroplasmy). It is possible that both of these situations (homoplasia and heteroplasmy) were a long-term consequence of mitochondrial oxidative phosphorylation that can lead to the accumulation of mtDNA mutations throughout life.