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Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

The importance of proper mutational analysis of BRCA1/2 in individuals at risk for hereditary breast and ovarian cancer syndrome is widely accepted. Standard genetic screening includes targeted analysis of recurrent, population-specific mutations. The purpose of the study was to establish the freque...

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Dades bibliogràfiques
Publicat a:J Appl Genet
Autors principals: Ratajska, Magdalena, Krygier, Magdalena, Stukan, Maciej, Kuźniacka, Alina, Koczkowska, Magdalena, Dudziak, Mirosław, Śniadecki, Marcin, Dębniak, Jarosław, Wydra, Dariusz, Brozek, Izabela, Biernat, Wojciech, Borg, Ake, Limon, Janusz, Wasąg, Bartosz
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4412280/
https://ncbi.nlm.nih.gov/pubmed/25366421
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-014-0254-5
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