Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1 [Genetics]
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 repair capacity may survive, albeit with very...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Aaron Seo, Orna Steinberg-Shemer, Sule Unal, Silvia Casadei, Tom Walsh, Fatma Gumruk, Stavit Shalev, Akiko Shimamura, Nurten Ayse Akarsu, Hannah Tamary, Mary-Claire King Tags: Biological Sciences Source Type: research