European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer
Publikation: Beitrag in Fachzeitschrift › Übersichtsartikel (Review) › Beigetragen › Begutachtung
Beitragende
- KU Leuven
- Universidad de Navarra
- Universite Claude Bernard Lyon 1
- Universität Duisburg-Essen
- IRCCS Istituto Europeo di Oncologia - Milano
- CHU Montpellier
- Catholic University of the Sacred Heart
- Universität Kopenhagen
- Vilnius University
- University of Medical Sciences Poznan
- Cancer Research UK Cambridge Institute (CRUK)
- Utrecht University
- Universität zu Köln
Abstract
Background: Homologous recombination repair (HRR) enables fault-free repair of double-stranded DNA breaks. HRR deficiency is predicted to occur in around half of high-grade serous ovarian carcinomas. Ovarian cancers harbouring HRR deficiency typically exhibit sensitivity to poly-ADP ribose polymerase inhibitors (PARPi). Current guidelines recommend a range of approaches for genetic testing to identify predictors of sensitivity to PARPi in ovarian cancer and to identify genetic predisposition. Design: To establish a European-wide consensus for genetic testing (including the genetic care pathway), decision making and clinical management of patients with recently diagnosed advanced ovarian cancer, and the validity of biomarkers to predict the effectiveness of PARPi in the first-line setting. The collaborative European experts’ consensus group consisted of a steering committee (n = 14) and contributors (n = 84). A (modified) Delphi process was used to establish consensus statements based on a systematic literature search, conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. Results: A consensus was reached on 34 statements amongst 98 caregivers (including oncologists, pathologists, clinical geneticists, genetic researchers, and patient advocates). The statements concentrated on (i) the value of testing for BRCA1/2 mutations and HRR deficiency testing, including when and whom to test; (ii) the importance of developing new and better HRR deficiency tests; (iii) the importance of germline non-BRCA HRR and mismatch repair gene mutations for predicting familial risk, but not for predicting sensitivity to PARPi, in the first-line setting; (iv) who should be able to inform patients about genetic testing, and what training and education should these caregivers receive. Conclusion: These consensus recommendations, from a multidisciplinary panel of experts from across Europe, provide clear guidance on the use of BRCA and HRR deficiency testing for recently diagnosed patients with advanced ovarian cancer.
Details
Originalsprache | Englisch |
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Seiten (von - bis) | 276-287 |
Seitenumfang | 12 |
Fachzeitschrift | Annals of oncology |
Jahrgang | 33 |
Ausgabenummer | 3 |
Publikationsstatus | Veröffentlicht - März 2022 |
Peer-Review-Status | Ja |
Externe IDs
PubMed | 34861371 |
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Schlagworte
Ziele für nachhaltige Entwicklung
ASJC Scopus Sachgebiete
Schlagwörter
- BRCA1/2, genetic counselling, homologous recombination deficiency, mainstream genetic testing, ovarian cancer, PARP inhibition