A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function

Loss-of-function pathogenic variants in BRCA1 confer a predisposition to breast and ovarian cancer. Genetic testing for sequence changes in BRCA1 frequently reveals a missense variant for which the impact on cancer risk and on the molecular function of BRCA1 is unknown. Functional BRCA1 is required...

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發表在:Am J Hum Genet
Main Authors: Starita, Lea M., Islam, Muhtadi M., Banerjee, Tapahsama, Adamovich, Aleksandra I., Gullingsrud, Justin, Fields, Stanley, Shendure, Jay, Parvin, Jeffrey D.
格式: Artigo
語言:Inglês
出版: Elsevier 2018
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6174279/
https://ncbi.nlm.nih.gov/pubmed/30219179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.07.016
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