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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Detalles Bibliográficos
Autores principales: Herman, Sandra, Varga, Dominic, Deissler, Heidrun L., Kreienberg, Rolf, Deissler, Helmut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2012
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3313516/
https://www.ncbi.nlm.nih.gov/pubmed/22481874

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3313516/
https://www.ncbi.nlm.nih.gov/pubmed/22481874

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