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BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance

11 Dec 2019

Abstract excerpt

BRCA1 mutant carcinomas are sensitive to PARP inhibitor (PARPi) therapy; however, resistance arises. BRCA1 BRCT domain mutant proteins do not fold correctly and are subject to proteasomal degradation, resulting in PARPi sensitivity. In this study, we show that cell lines and patient-derived tumors, with highly disruptive BRCT domain mutations, have readily detectable BRCA1 protein expression, and are able to...

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PMID: 31827092
DOI: 10.1038/s41467-019-13530-6

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