Article
Clinical BRCA1/2 Reversion Analysis Identifies Hotspot Mutations and Predicted Neoantigens Associated with Therapy Resistance.
Cancer discovery - 1 Oct 2020
Pettitt Stephen J, Frankum Jessica R, Punta Marco, Lise Stefano, Alexander John, Chen Yi, Yap Timothy A, Haider Syed, Tutt Andrew N J, Lord Christopher J
Abstract excerpt
Reversion mutations in BRCA1 or BRCA2 are associated with resistance to PARP inhibitors and platinum. To better understand the nature of these mutations, we collated, codified, and analyzed more than 300 reversions. This identified reversion "hotspots" and "deserts" in regions encoding the N and C terminus, respectively, of BRCA2, suggesting that pathogenic mutations in these regions may be at higher or lower...
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