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Biology subjects

Irving, E.

Publications and source records attributed to Irving, E..

2 recordsLinked to original sources

An inducible BRCA1 expression system with in vivo applicability uncovers activity of the combination of ATR and PARP inhibitors to overcome therapy resistance

Poly(ADP-ribose) polymerase inhibitors (PARPi) have transformed cancer therapy for patients harbouring homologous recombination repair (HRR) deficiencies, notably BRCA1/2 mutations. However, resistance to PARPi remains a clinical challenge, with restoration of BRCA1 function via hypomorphic variants representing an understudied scenario. Here, we engineered a doxycycline-inducible BRCA1 expression system in the BRCA1-mutant, triple-negative breast cancer cell line MDAMB436, permitting controlled analysis of functionally distinct BRCA1 hypomorphs in vitro and in vivo. Among multiple BRCA1 variants generated--including RING, coiled-coil, and BRCT domain mutants--only overexpression of the {Delta}exon11 hypomorph robustly conferred resistance to olaparib and carboplatin, with drug sensitivity correlating to {Delta}exon11 expression levels. While {Delta}exon11 BRCA1 mediated HRR restoration, its efficiency was consistently lower than full-length BRCA1, as measured by RAD51 foci formation and interaction with repair partners such as PALB2. In vivo, tumours expressing {Delta}exon11 BRCA1 exhibited only partial resistance to olaparib compared to those expressing full-length BRCA1. Importantly, the combination of olaparib and the ATR inhibitor, ceralasertib, overcame {Delta}exon11-mediated resistance, impairing RAD51 foci formation in {Delta}exon11-expressing cells. Our findings identify a dose-dependent, hypomorphic HRR restoration by {Delta}exon11 BRCA1, help explain the variable resistance observed in BRCA1-mutant pre-clinical models expressing this hypomorph and propose ATR inhibition in combination with PARPi as a clinical strategy to counteract therapeutic resistance mediated by {Delta}exon11 BRCA1 hypomorphs. Statement of significanceThis work demonstrates that ATR inhibition can overcome PARP inhibitor resistance mediated by BRCA1 {Delta}exon 11 hypomorphs, supporting combination therapy as a promising strategy for PARPi-resistant BRCA1-mutant cancers.

cancer biology↗

A meta-analysis of clinical cases of reversion mutations in BRCA genes identifies signatures of DNA end-joining repair mechanisms driving therapy resistance

Germline mutations in the BRCA1 or BRCA2 genes predispose to hereditary breast and ovarian cancer and, mostly in the case of BRCA2, are also prevalent in cases of pancreatic and prostate malignancies. Tumours from these patients tend to lose both copies of the wild type BRCA gene, which makes them exquisitely sensitive to platinum drugs and PARP inhibitors (PARPi), treatments of choice in these disease settings. Reversion secondary mutations with the capacity of restoring BRCA protein expression have been documented in the literature as bona fide mechanisms of resistance to these treatments. Here, we perform a detailed analysis of clinical cases of reversion mutations described in BRCA1 and BRCA2, which underlines the different importance of BRCA protein domains in contributing to resistance and the potential key role of mutagenic end-joining DNA repair pathways in generating reversions. Our analyses suggest that pharmacological inhibition of these repair pathways could improve durability of drug treatments and highlights potential interventions to both prevent the appearance of reversions and provide new therapeutic opportunities after their acquisition. HighlightsO_LIComprehensive analysis of reversion mutations in BRCA genes identified in clinical cases of resistance to platinum or PARPi C_LIO_LIRevertant proteins devoid of parts of the original sequence, identifying key protein functions involved in resistance C_LIO_LIHypomorph revertant BRCA proteins suggest potential new therapeutic opportunities to overcome resistance C_LIO_LIPrevalence of mutational end-joining DNA repair mechanisms leading to reversions, especially in those affecting BRCA2 C_LIO_LIPharmacological inhibition of mutational end-joining DNA repair could improve durability of drug treatments C_LI

cancer biology↗