Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G p.I2285V variant

Variants of Unknown Significance (VUS) in BRCA1 and BRCA2 are common, and present significant challenges for genetic counseling. We observed that BRCA2: c.6853A>G (p.I2285V) (Brest cancer Information Core [BIC] name: 7081A>G; http://nhgri.nih.gov/bic/) co-occurs in trans with the founder mutat...

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Détails bibliographiques
Auteurs principaux: Li, Lili, Biswas, Kajal, Habib, Laura Anne, Kuznetsov, Sergey G., Hamel, Nancy, Kirchhoff, Tomas, Wong, Nora, Armel, Susan, Chong, George, Narod, Steven A., Claes, Kathleen, Offit, Kenneth, Robson, Mark E, Stauffer, Stacey, Sharan, Shyam K., Foulkes, William D.
Format: Artigo
Langue:Inglês
Publié: 2009
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3501199/
https://ncbi.nlm.nih.gov/pubmed/19795481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21101
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