BRCA1 and BRCA2mutations in breast cancer patients from Venezuela

A sample of 58 familial breast cancer patients from Venezuela were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIM no. 113705) and BRCA2 (MIM no. 600185) genes by using conformation-sensitive gel electrophoresis. Ashkenazi Jewish founder mutations wer...

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Autores principales:	Lara,Karlena, Consigliere,Nigmet, Pérez,Jorge, Porco,Antonietta
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2012
Materias:	BRCA genes Breast cancer screening mutations
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602012000200003
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spelling	oai:scielo:S0716-976020120002000032012-08-30BRCA1 and BRCA2mutations in breast cancer patients from VenezuelaLara,KarlenaConsigliere,NigmetPérez,JorgePorco,Antonietta BRCA genes Breast cancer screening mutations A sample of 58 familial breast cancer patients from Venezuela were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIM no. 113705) and BRCA2 (MIM no. 600185) genes by using conformation-sensitive gel electrophoresis. Ashkenazi Jewish founder mutations were not found in any of the samples. We identified 6 (10.3%) and 4 (6.9%) patients carrying germline mutations in BRCA1 and BRCA2, respectively. Four pathogenic mutations were found in BRCA1, one is a novel mutation (c.951_952insA), while the other three had been previously reported (c.1129_1135insA, c.4603G>T and IVS20+1G>A). We also found 4 pathogenic mutations in BRCA2, two novel mutations (c.2732_2733insA and c.3870_3873delG) and two that have been already reported (c.3036_3039delACAA and c.6024_6025_delTA). In addition, 17 variants of unknown significance (6 BRCA1 variants and 11 BRCA2 variants), 5 BRCA2 variants with no clinical importance and 22 polymorphisms (12 in BRCA1 and10 in BRCA2) were also identified. This is the first genetic study on BRCA gene mutations conducted in breast cancer patients from Venezuela. The ethnicity of our population, as well as the heterogeneous and broad spectrum of BRCA genes mutations, must be considered to optimize genetic counseling and disease prevention in affected families.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.45 n.2 20122012-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602012000200003en10.4067/S0716-97602012000200003
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	BRCA genes Breast cancer screening mutations
spellingShingle	BRCA genes Breast cancer screening mutations Lara,Karlena Consigliere,Nigmet Pérez,Jorge Porco,Antonietta BRCA1 and BRCA2mutations in breast cancer patients from Venezuela
description	A sample of 58 familial breast cancer patients from Venezuela were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIM no. 113705) and BRCA2 (MIM no. 600185) genes by using conformation-sensitive gel electrophoresis. Ashkenazi Jewish founder mutations were not found in any of the samples. We identified 6 (10.3%) and 4 (6.9%) patients carrying germline mutations in BRCA1 and BRCA2, respectively. Four pathogenic mutations were found in BRCA1, one is a novel mutation (c.951_952insA), while the other three had been previously reported (c.1129_1135insA, c.4603G>T and IVS20+1G>A). We also found 4 pathogenic mutations in BRCA2, two novel mutations (c.2732_2733insA and c.3870_3873delG) and two that have been already reported (c.3036_3039delACAA and c.6024_6025_delTA). In addition, 17 variants of unknown significance (6 BRCA1 variants and 11 BRCA2 variants), 5 BRCA2 variants with no clinical importance and 22 polymorphisms (12 in BRCA1 and10 in BRCA2) were also identified. This is the first genetic study on BRCA gene mutations conducted in breast cancer patients from Venezuela. The ethnicity of our population, as well as the heterogeneous and broad spectrum of BRCA genes mutations, must be considered to optimize genetic counseling and disease prevention in affected families.
author	Lara,Karlena Consigliere,Nigmet Pérez,Jorge Porco,Antonietta
author_facet	Lara,Karlena Consigliere,Nigmet Pérez,Jorge Porco,Antonietta
author_sort	Lara,Karlena
title	BRCA1 and BRCA2mutations in breast cancer patients from Venezuela
title_short	BRCA1 and BRCA2mutations in breast cancer patients from Venezuela
title_full	BRCA1 and BRCA2mutations in breast cancer patients from Venezuela
title_fullStr	BRCA1 and BRCA2mutations in breast cancer patients from Venezuela
title_full_unstemmed	BRCA1 and BRCA2mutations in breast cancer patients from Venezuela
title_sort	brca1 and brca2mutations in breast cancer patients from venezuela
publisher	Sociedad de Biología de Chile
publishDate	2012
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602012000200003
work_keys_str_mv	AT larakarlena brca1andbrca2mutationsinbreastcancerpatientsfromvenezuela AT consiglierenigmet brca1andbrca2mutationsinbreastcancerpatientsfromvenezuela AT perezjorge brca1andbrca2mutationsinbreastcancerpatientsfromvenezuela AT porcoantonietta brca1andbrca2mutationsinbreastcancerpatientsfromvenezuela
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BRCA1 and BRCA2mutations in breast cancer patients from Venezuela

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