Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses

Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses

We describe a family with a history of breast and ovarian cancer in which MLPA analysis of the BRCA1 gene pointed to a deletion including a part of exon 11. Further characterization confirmed a loss of 374 bp in a region completely covered by conventional sequencing which had not revealed the deleti...

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Bibliographic Details
Main Authors: Sandra Herman, Dominic Varga, Heidrun L. Deissler, Rolf Kreienberg, Helmut Deissler
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2012-01-01
Series:Genetics and Molecular Biology
Subjects:
mutation analysis
DNA sequencing
PCR
hereditary breast cancer
model calculations
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000100007

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000100007

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