Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1

The identification of founder mutations in cancer predisposing genes is important to improve risk assessment in geographically defined populations, since it may provide specific targets resulting in cost-effective genetic testing. Here, we report the characterization of the BRCA1 c.190T>C (p.Cys6...

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Main Authors: Caleca, Laura, Putignano, Anna Laura, Colombo, Mara, Congregati, Caterina, Sarkar, Mohosin, Magliery, Thomas J., Ripamonti, Carla B., Foglia, Claudia, Peissel, Bernard, Zaffaroni, Daniela, Manoukian, Siranoush, Tondini, Carlo, Barile, Monica, Pensotti, Valeria, Bernard, Loris, Papi, Laura, Radice, Paolo
פורמט: Artigo
שפה:Inglês
יצא לאור: Public Library of Science 2014
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3916327/
https://ncbi.nlm.nih.gov/pubmed/24516540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0086924
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