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| El-Husny,Antonette; Raiol-Moraes,Milene; Amador,Marcos; Ribeiro-dos-Santos,André M.; Montagnini,André; Barbosa,Silvanira; Silva,Artur; Assumpção,Paulo; Ishak,Geraldo; Santos,Sidney; Pinto,Pablo; Cruz,Aline; Ribeiro-dos-Santos,Ândrea. |
| Abstract 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CDH1; Germline mutations; HDGC; Gastric Cancer; NGS. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200189 |
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| Lima,Eleonidas Moura; Lopes,Otávio Sérgio; Soares,Leonardo Ferreira; Arruda,Talitta Dantas; Gigek,Carolina Oliveira; Melo,Cynthia Germoglio Farias; Smith,Marilia Arruda Cardoso; Oliveira,João Ricardo Gonçalves; Medeiros,Arnaldo; Delatorre,Plínio; Burbano,Rommel Rodriguez. |
| Gastric cancer (GC) is a multifactorial disease with a high mortality rate in Brazil and worldwide. This work aimed to evaluate single nucleotide polymorphisms (SNP) rs1695, in the Glutathione S-Transferase Pi (GSTP1) gene in GC samples by comparative analysis Specific PCR - ASP and Dideoxy Single Allele-Specific PCR - DSASP methods. The DSASP is the proposed new method for allelic discrimination. This work analyzed 60 GC samples, 26 diffuse and 34 intestinal types. The SNP rs1695 of the GSTP1 gene was significantly associated with GC analyzed by DSASP method (χ2 = 9.7, P < 0.05). A comparative analysis of the data obtained from both methods did not differ significantly (χ2 = 0.08, P > 0.05). These results suggest that the SNP rs1695 of the GSTP1... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: DSASP method; Genotyping; Gastric Cancer. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132015000300414 |
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