Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer

Breast cancer is the most common malignancy among women. Chilean studies reveal that this cancer presents the third highest mortality rate. A family history of breast cancer is one of the major risk factors for the development of this disease. BRCA1 and BRCA2 are the two main hereditary breast cance...

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Autores principales:	JARA,LILIAN, AMPUERO,SANDRA, SECCIA,LORENA, BUSTAMANTE,MARIO, BLANCO,RAFAEL, OJEDA,JOSÉ MANUEL
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2002
Materias:	Breast Cancer BRCA1 and BRCA2 genes Mutations Chilean Women
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602002000100011
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spelling	oai:scielo:S0716-976020020001000112003-01-28Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancerJARA,LILIANAMPUERO,SANDRASECCIA,LORENABUSTAMANTE,MARIOBLANCO,RAFAELOJEDA,JOSÉ MANUEL Breast Cancer BRCA1 and BRCA2 genes Mutations Chilean Women Breast cancer is the most common malignancy among women. Chilean studies reveal that this cancer presents the third highest mortality rate. A family history of breast cancer is one of the major risk factors for the development of this disease. BRCA1 and BRCA2 are the two main hereditary breast cancer susceptibility genes, and mutations in these genes are related to inherited breast cancer. In specific populations only some mutations have been found to be associated with susceptibility. The purpose of this study was to establish the frequency of 5382insC (BRCA1) and 6174delT (BRCA2) germline mutations in 382 healthy Chilean women with at least two relatives affected with breast cancer and in probands and their relatives from 8 high risk families for breast cancer, using mismatch PCR assay. The results obtained showed that 5382insC and 6174delT mutations were not found in either of the groups studied. The ethnic origin of the contemporary Chilean population and the data reported in the literature suggest that these mutations may be absent or have a very low frequency in this population.. This genetic study is part of a breast cancer screening program that also includes annual mammography and clinical breast examination over a five-year period. Strategies to reduce morbidity and mortality associated with breast cancer lie in early detection in women with genetic risk.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.35 n.1 20022002-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602002000100011en10.4067/S0716-97602002000100011
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	Breast Cancer BRCA1 and BRCA2 genes Mutations Chilean Women
spellingShingle	Breast Cancer BRCA1 and BRCA2 genes Mutations Chilean Women JARA,LILIAN AMPUERO,SANDRA SECCIA,LORENA BUSTAMANTE,MARIO BLANCO,RAFAEL OJEDA,JOSÉ MANUEL Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer
description	Breast cancer is the most common malignancy among women. Chilean studies reveal that this cancer presents the third highest mortality rate. A family history of breast cancer is one of the major risk factors for the development of this disease. BRCA1 and BRCA2 are the two main hereditary breast cancer susceptibility genes, and mutations in these genes are related to inherited breast cancer. In specific populations only some mutations have been found to be associated with susceptibility. The purpose of this study was to establish the frequency of 5382insC (BRCA1) and 6174delT (BRCA2) germline mutations in 382 healthy Chilean women with at least two relatives affected with breast cancer and in probands and their relatives from 8 high risk families for breast cancer, using mismatch PCR assay. The results obtained showed that 5382insC and 6174delT mutations were not found in either of the groups studied. The ethnic origin of the contemporary Chilean population and the data reported in the literature suggest that these mutations may be absent or have a very low frequency in this population.. This genetic study is part of a breast cancer screening program that also includes annual mammography and clinical breast examination over a five-year period. Strategies to reduce morbidity and mortality associated with breast cancer lie in early detection in women with genetic risk.
author	JARA,LILIAN AMPUERO,SANDRA SECCIA,LORENA BUSTAMANTE,MARIO BLANCO,RAFAEL OJEDA,JOSÉ MANUEL
author_facet	JARA,LILIAN AMPUERO,SANDRA SECCIA,LORENA BUSTAMANTE,MARIO BLANCO,RAFAEL OJEDA,JOSÉ MANUEL
author_sort	JARA,LILIAN
title	Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer
title_short	Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer
title_full	Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer
title_fullStr	Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer
title_full_unstemmed	Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer
title_sort	analysis of 5382insc (brca1) and 6174delt (brca2) mutations in 382 healthy chilean women with a family history of breast cancer
publisher	Sociedad de Biología de Chile
publishDate	2002
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602002000100011
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Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer

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