The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high risk breast cancer families

Demand for BRCA1 and BRCA2 mutation screening is increasing, as their identification will impact medical management. However, both the contribution of different mutation types in BRCA1 and BRCA2, and whom should be offered testing for large genomic rearrangements, have not been well established in t...

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Autori principali: Palma, Maurizia Dalla, Domchek, Susan M., Stopfer, Jill, Erlichman, Julie, Siegfried, Jill D., Tigges-Cardwell, Jessica, Mason, Bernard A., Rebbeck, Timothy R., Nathanson, Katherine L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2752710/
https://ncbi.nlm.nih.gov/pubmed/18703817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1158/0008-5472.CAN-08-0599
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