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| BERNAL,CAROLINA; VARGAS,MACARENA; OSSANDÓN,FRANCISCO; SANTIBÁÑEZ,EUDOCIA; URRUTIA,JULIO; LUENGO,VÍCTOR; ZAVALA,LUIS F; BACKHOUSE,CLAUDIA; PALMA,MARIANA; ARGANDOÑA,JORGE; AGUAYO,FRANCISCO; CORVALÁN,ALEJANDRO. |
| Diffuse type gastric carcinoma is the most aggressive type of gastric cáncer. This type of tumor is not preceded by precancerous changes and is associated with early-onset and hereditary syndromes. To test the hypothesis that DNA methylation profile would be useful for molecular classification of the diffuse type gastric carcinoma, DNA methylation patterns of the CpG Island of 17 genes were studied in 104 cases and 47 normal adjacent gastric mucosa by Methylation-specific PCR, Immunohistochemistry and Hierarchical clustering analysis. The most frequent methylated genes were FHIT, E-cadherin, BRCA1 and APC (>50%), followed by pl4, pl6, pl5, p73, MGMT and SEMA3B (20-49%). Hierarchical clustering analysis reveáis four groups with different clinical... |
| Tipo: Journal article |
Palavras-chave: Gastric cáncer; Diffuse type; Early-onset; BRCA-1. |
| Ano: 2008 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602008000300007 |
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| JARA,LILIAN; AMPUERO,SANDRA; SANTIBÁÑEZ,EUDOCIA; SECCIA,LORENA; RODRÍGUEZ,JUAN; BUSTAMANTE,MARIO; LAY-SON,GUILLERMO; OJEDA,JOSÉ MANUEL; REYES,JOSÉ MIGUEL; BLANCO,RAFAEL. |
| BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, polymorphisms, and variants have been described, several mutations have been found to be recurrent in this gene. We have analyzed 63 Chilean breast/ovarian cancer families for eighteen frequent BRCA1 mutations. The analysis of the five exons and two introns in which these mutations are located was made using mismatch PCR assay, ASO hybridization assay, restriction fragment analysis, allele specific PCR assay and direct sequentiation techniques. Two BRCA1 mutations (185delAG and C61G) and one variant of unknown significance (E1250K) were found... |
| Tipo: Journal article |
Palavras-chave: BRCA1 gene; Frequent mutations; Polymorphism; 4185delCAAG; New mutation; Chilean population. |
| Ano: 2004 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602004000300011 |
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