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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Autors principals: 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
Idioma:Inglês
Publicat: 2012
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Article
Accés en línia: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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