Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families
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 in four of these families. Also, a new mutation (4185delCAAG) and one previously described polymorphism (E1038G) were found in two other families. The 185delAG was found in a 3.17 % of the families and the others were present only in one of the families of this cohort. Therefore these mutations are not prominent in the Chilean population. The variant of unknown significance and the polymorphism detected could represent a founder effect of Spanish origin
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Sociedad de Biología de Chile
2004
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oai:scielo:S0716-976020040003000112005-03-14Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer familiesJARA,LILIANAMPUERO,SANDRASANTIBÁÑEZ,EUDOCIASECCIA,LORENARODRÍGUEZ,JUANBUSTAMANTE,MARIOLAY-SON,GUILLERMOOJEDA,JOSÉ MANUELREYES,JOSÉ MIGUELBLANCO,RAFAEL BRCA1 gene frequent mutations polymorphism 4185delCAAG new mutation Chilean population 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 in four of these families. Also, a new mutation (4185delCAAG) and one previously described polymorphism (E1038G) were found in two other families. The 185delAG was found in a 3.17 % of the families and the others were present only in one of the families of this cohort. Therefore these mutations are not prominent in the Chilean population. The variant of unknown significance and the polymorphism detected could represent a founder effect of Spanish origininfo:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.37 n.3 20042004-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602004000300011en10.4067/S0716-97602004000300011 |
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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 |
| spellingShingle |
JARA,LILIAN AMPUERO,SANDRA SANTIBÁÑEZ,EUDOCIA SECCIA,LORENA RODRÍGUEZ,JUAN BUSTAMANTE,MARIO LAY-SON,GUILLERMO OJEDA,JOSÉ MANUEL REYES,JOSÉ MIGUEL BLANCO,RAFAEL Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families |
| author_facet |
JARA,LILIAN AMPUERO,SANDRA SANTIBÁÑEZ,EUDOCIA SECCIA,LORENA RODRÍGUEZ,JUAN BUSTAMANTE,MARIO LAY-SON,GUILLERMO OJEDA,JOSÉ MANUEL REYES,JOSÉ MIGUEL BLANCO,RAFAEL |
| author_sort |
JARA,LILIAN |
| title |
Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families |
| title_short |
Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families |
| title_full |
Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families |
| title_fullStr |
Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families |
| title_full_unstemmed |
Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families |
| title_sort |
molecular analysis of the eighteen most frequent mutations in the brca1 gene in 63 chilean breast cancer families |
| description |
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 in four of these families. Also, a new mutation (4185delCAAG) and one previously described polymorphism (E1038G) were found in two other families. The 185delAG was found in a 3.17 % of the families and the others were present only in one of the families of this cohort. Therefore these mutations are not prominent in the Chilean population. The variant of unknown significance and the polymorphism detected could represent a founder effect of Spanish origin |
| publisher |
Sociedad de Biología de Chile |
| publishDate |
2004 |
| url |
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602004000300011 |
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| _version_ |
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