A Guide for Functional Analysis of BRCA1 Variants of Uncertain Significance (VUS)

Germline mutations in the tumor suppressor gene BRCA1 confer an estimated lifetime risk of 56–80% for breast cancer and 15–60% for ovarian cancer. Since the mid 1990’s when BRCA1 was identified, genetic testing has revealed over 3,000 unique germline variants. However, for a significant number of th...

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Détails bibliographiques
Auteurs principaux: Millot, Gaël, Carvalho, Marcelo A., Caputo, Sandrine M, Vreeswijk, Maaike P.G., Brown, Melissa A, Webb, Michelle, Rouleau, Etienne, Neuhausen, Susan L., Hansen, Thomas v. O., Galli, Alvaro, Brandão, Rita D, Blok, Marinus J., Velkova, Aneliya, Couch, Fergus J., Monteiro, Alvaro N.A.
Format: Artigo
Langue:Inglês
Publié: 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3470782/
https://ncbi.nlm.nih.gov/pubmed/22753008
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22150
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