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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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