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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2018
Fag:
Biological Sciences
Online adgang: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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