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

30 Apr 2018

Abstract excerpt

Significance Many patients with breast and ovarian cancer carry inherited cancer-predisposing mutations in BRCA1 . However, virtually no patients have two inherited mutations in BRCA1 because the DNA repair function of BRCA1 is essential for embryonic development. We discovered that patients with two nonsense mutations from a specific region of BRCA1 may survive as the result of naturally occurring alternative...

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PMID: 29712865
DOI: 10.1073/pnas.1801796115

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