Article
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Molecular cancer - 5 Aug 2024
Nesic Ksenija, Krais John J, Wang Yifan, Vandenberg Cassandra J, Patel Pooja, Cai Kathy Q, Kwan Tanya, Lieschke Elizabeth, Ho Gwo-Yaw, Barker Holly E, Bedo Justin, Casadei Silvia, Farrell Andrew, Radke Marc, Shield-Artin Kristy, Penington Jocelyn S, Geissler Franziska, Kyran Elizabeth, Betsch Robert, Xu Lijun, Zhang Fan, Dobrovic Alexander, Olesen Inger, Kristeleit Rebecca, Oza Amit, McNeish Iain, Ratnayake Gayanie, Traficante Nadia, DeFazio Anna, Bowtell David D L, Harding Thomas C, Lin Kevin, Swisher Elizabeth M, Kondrashova Olga, Scott Clare L, Johnson Neil, Wakefield Matthew J
Abstract excerpt
PARP inhibitor (PARPi) therapy has transformed outcomes for patients with homologous recombination DNA repair (HRR) deficient ovarian cancers, for example those with BRCA1 or BRCA2 gene defects. Unfortunately, PARPi resistance is common. Multiple resistance mechanisms have been described, including secondary mutations that restore the HR gene reading frame. BRCA1 splice isoforms △11 and △11q can contribute to...
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