Determinación de una mutación en el gen BRCA1 en una familia que presenta cáncer de mama hereditario

Background: Breast cancer is the main cause of death among women between 40 and 55 years old, in whom the hereditary cases are common. Therefore, the molecular diagnosis of germ line mutations involved in breast cancer susceptibility is relevant. BRCA1 and BRCA2 have been described as the two major...

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Autores principales:	Gallardo C,Marcela, Faúndez J,Paola, Cruz,Adolfo, Rodríguez,Mario, Alvarez Z,Manuel, Carvallo SQ,Pilar
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2004
Materias:	BRCA1 protein Breast neoplasms Genes, BRCA1
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000200010
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spelling	oai:scielo:S0034-988720040002000102005-11-23Determinación de una mutación en el gen BRCA1 en una familia que presenta cáncer de mama hereditarioGallardo C,MarcelaFaúndez J,PaolaCruz,AdolfoRodríguez,MarioAlvarez Z,ManuelCarvallo SQ,Pilar BRCA1 protein Breast neoplasms Genes, BRCA1 Background: Breast cancer is the main cause of death among women between 40 and 55 years old, in whom the hereditary cases are common. Therefore, the molecular diagnosis of germ line mutations involved in breast cancer susceptibility is relevant. BRCA1 and BRCA2 have been described as the two major genes involved in familial breast/ovarian cancer. We are performing a screening of BRCA1 and BRCA2 genes, in a group of 50 high risk Chilean families for breast/ovarian cancer. We have detected a mutation, 3936 C>T, that leads to a truncated protein, in two affected women from one of the families in study. Aim: To report the results of the screening for 3936 C>T in healthy relatives of index women. Material and me-thods: The molecular diagnosis of this mutation was offered to the healthy members of this family, and 17 relatives accepted to be tested. The region of the BRCA1 gene that includes the 3936 C>T mutation, was analyzed through PCR amplification, digestion with restriction enzyme BstNI, and direct sequencing. Results: 3936 C>T DNA mutation was present in 8 relatives. Conclusions: Considering the high risk of having a mutation in the BRCA1 gene, specially in pre-menopausal women, the molecualr diagnosis, genetic and clinical counseling are highly relevant. In Chile the molecualr diagnosis is still not widely applied (Rev Méd Chile 2004; 132: 203-8)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.132 n.2 20042004-02-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000200010es10.4067/S0034-98872004000200010
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	BRCA1 protein Breast neoplasms Genes, BRCA1
spellingShingle	BRCA1 protein Breast neoplasms Genes, BRCA1 Gallardo C,Marcela Faúndez J,Paola Cruz,Adolfo Rodríguez,Mario Alvarez Z,Manuel Carvallo SQ,Pilar Determinación de una mutación en el gen BRCA1 en una familia que presenta cáncer de mama hereditario
description	Background: Breast cancer is the main cause of death among women between 40 and 55 years old, in whom the hereditary cases are common. Therefore, the molecular diagnosis of germ line mutations involved in breast cancer susceptibility is relevant. BRCA1 and BRCA2 have been described as the two major genes involved in familial breast/ovarian cancer. We are performing a screening of BRCA1 and BRCA2 genes, in a group of 50 high risk Chilean families for breast/ovarian cancer. We have detected a mutation, 3936 C>T, that leads to a truncated protein, in two affected women from one of the families in study. Aim: To report the results of the screening for 3936 C>T in healthy relatives of index women. Material and me-thods: The molecular diagnosis of this mutation was offered to the healthy members of this family, and 17 relatives accepted to be tested. The region of the BRCA1 gene that includes the 3936 C>T mutation, was analyzed through PCR amplification, digestion with restriction enzyme BstNI, and direct sequencing. Results: 3936 C>T DNA mutation was present in 8 relatives. Conclusions: Considering the high risk of having a mutation in the BRCA1 gene, specially in pre-menopausal women, the molecualr diagnosis, genetic and clinical counseling are highly relevant. In Chile the molecualr diagnosis is still not widely applied (Rev Méd Chile 2004; 132: 203-8)
author	Gallardo C,Marcela Faúndez J,Paola Cruz,Adolfo Rodríguez,Mario Alvarez Z,Manuel Carvallo SQ,Pilar
author_facet	Gallardo C,Marcela Faúndez J,Paola Cruz,Adolfo Rodríguez,Mario Alvarez Z,Manuel Carvallo SQ,Pilar
author_sort	Gallardo C,Marcela
title	Determinación de una mutación en el gen BRCA1 en una familia que presenta cáncer de mama hereditario
title_short	Determinación de una mutación en el gen BRCA1 en una familia que presenta cáncer de mama hereditario
title_full	Determinación de una mutación en el gen BRCA1 en una familia que presenta cáncer de mama hereditario
title_fullStr	Determinación de una mutación en el gen BRCA1 en una familia que presenta cáncer de mama hereditario
title_full_unstemmed	Determinación de una mutación en el gen BRCA1 en una familia que presenta cáncer de mama hereditario
title_sort	determinación de una mutación en el gen brca1 en una familia que presenta cáncer de mama hereditario
publisher	Sociedad Médica de Santiago
publishDate	2004
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000200010
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Determinación de una mutación en el gen BRCA1 en una familia que presenta cáncer de mama hereditario

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