Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1

BRCA1 is essential for repair of DNA double-strand breaks by homologous recombination, and hence for survival. Complete loss of its function is lethal during early embryonic development. Patients who are compound heterozygous for BRCA1 truncating mutations and missense alleles that retain some DNA r...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Seo, Aaron, Steinberg-Shemer, Orna, Unal, Sule, Casadei, Silvia, Walsh, Tom, Gumruk, Fatma, Shalev, Stavit, Shimamura, Akiko, Akarsu, Nurten Ayse, Tamary, Hannah, King, Mary-Claire
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2018
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5960323/
https://ncbi.nlm.nih.gov/pubmed/29712865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1801796115
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