Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect

BRCA1-deficient cells show defects in DNA repair and rely on other members of the DNA repair machinery, which makes them sensitive to PARP inhibitors (PARPi). Although carrying a germline pathogenic variant in BRCA1/2 is the best determinant of response to PARPi, a significant percentage of the pati...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Vaclová, Tereza, Woods, Nicholas T., Megías, Diego, Gomez-Lopez, Sergio, Setién, Fernando, García Bueno, José María, Macías, José Antonio, Barroso, Alicia, Urioste, Miguel, Esteller, Manel, Monteiro, Alvaro N.A., Benítez, Javier, Osorio, Ana
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5815624/
https://ncbi.nlm.nih.gov/pubmed/27742776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw343
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