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Significance Many patients with breast and ovarian cancer carry inherited cancer-predisposing mutations inBRCA1 . However, virtually no patients have two inherited mutations inBRCA1 because the DNA repair function ofBRCA1 is essential for embryonic development. We discovered that patients with two nonsense mutations from a specific region ofBRCA1 may survive as the result of naturally occurring alternative splicing that yields a short but partially functional BRCA1 protein. These patients are extremely rare, and are characterized by severe chromosomal fragility, congenital anomalies, and predisposition to childhood cancers.

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