European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer

Autor: I. Vergote, A. González-Martín, I. Ray-Coquard, P. Harter, N. Colombo, P. Pujol, D. Lorusso, M.R. Mirza, B. Brasiuniene, R. Madry, J.D. Brenton, M.G.E.M. Ausems, R. Büttner, D. Lambrechts, M. Ausems, J. Brenton, M. Abreu, S. Balboni, S. Banerjee, M. Barberis, M.P. Barretina Ginesta, J.-F. Baurain, M. Bignami, L. Bjorge, P. Blecharz, I. Bruchim, M. Capilna, N. Cerana, A. Cicchetti, D. Collins, N. Concin, M. D’Incalci, B. Davidson, T. de la Motte Rouge, P. De Iaco, F. Demirkiran, H. Denys, T. Doerk, A. Dorum, A. Ferrero, A.P. Fidalgo, M. Genuardi, L. Gladieff, R. Glasspool, C. Grimm, M. Gultekin, E. Hahnen, A. Hasenburg, A. Hegmane, V. Heinzelmann, E. Hogdall, R. Janavicius, S. Jarmalaite, R. Kalachand, R. Kaneva, S. Kilickap, R. Kocian, D. Kolencik, R. Kristeleit, A. Kryzhanivska, A. Leary, B. Lemley, M. Ligtenberg, J.A. López-Guerrero, C.J. Lord, E. Avall-Lundqvist, J. Maenpaa, S. Mahner, F. Marmé, C. Marth, I. McNeish, S. Merkelbach-Bruse, M. Mourits, N. Normanno, A. Oaknin, K. Ojamaa, C. Papdimitriou, F. Penault-Llorca, A.M. Perrone, S. Pignata, E. Pikarsky, E. Rouleau, M. Rubio, A. Sapino, B. Schmalfeldt, J. Sehouli, R. Shapira, K.D. Steffensen, V. Sukhin, J. Syrios, Z. Szallasi, C. Taskiran, M. Terzic, M. Tischkowitz, I. Toth, K. Van de Vijver, M.A. Vardar, B. Wasag, P. Wimberger, E. Witteveen
Přispěvatelé: Vergote I., Gonzalez-Martin A., Ray-Coquard I., Harter P., Colombo N., Pujol P., Lorusso D., Mirza M.R., Brasiuniene B., Madry R., Brenton J.D., Ausems M.G.E.M., Buttner R., Lambrechts D., Ausems M., Brenton J., Abreu M., Balboni S., Banerjee S., Barberis M., Barretina Ginesta M.P., Baurain J.-F., Bignami M., Bjorge L., Blecharz P., Bruchim I., Capilna M., Cerana N., Cicchetti A., Collins D., Concin N., D'Incalci M., Davidson B., de la Motte Rouge T., De Iaco P., Demirkiran F., Denys H., Doerk T., Dorum A., Ferrero A., Fidalgo A.P., Genuardi M., Gladieff L., Glasspool R., Grimm C., Gultekin M., Hahnen E., Hasenburg A., Hegmane A., Heinzelmann V., Hogdall E., Janavicius R., Jarmalaite S., Kalachand R., Kaneva R., Kilickap S., Kocian R., Kolencik D., Kristeleit R., Kryzhanivska A., Leary A., Lemley B., Ligtenberg M., Lopez-Guerrero J.A., Lord C.J., Avall-Lundqvist E., Maenpaa J., Mahner S., Marme F., Marth C., McNeish I., Merkelbach-Bruse S., Mourits M., Normanno N., Oaknin A., Ojamaa K., Papdimitriou C., Penault-Llorca F., Perrone A.M., Pignata S., Pikarsky E., Rouleau E., Rubio M., Sapino A., Schmalfeldt B., Sehouli J., Shapira R., Steffensen K.D., Sukhin V., Syrios J., Szallasi Z., Taskiran C., Terzic M., Tischkowitz M., Toth I., Van de Vijver K., Vardar M.A., Wasag B., Wimberger P., Witteveen E., Vergote, I, Gonzalez-Martin, A, Ray-Coquard, I, Harter, P, Colombo, N, Pujol, P, Lorusso, D, Mirza, M, Brasiuniene, B, Madry, R, Brenton, J, Ausems, M, Buttner, R, Lambrechts, D, Abreu, M, Balboni, S, Banerjee, S, Barberis, M, Barretina Ginesta, M, Baurain, J, Bignami, M, Bjorge, L, Blecharz, P, Bruchim, I, Capilna, M, Cerana, N, Cicchetti, A, Collins, D, Concin, N, D'Incalci, M, Davidson, B, de la Motte Rouge, T, De Iaco, P, Demirkiran, F, Denys, H, Doerk, T, Dorum, A, Ferrero, A, Fidalgo, A, Genuardi, M, Gladieff, L, Glasspool, R, Grimm, C, Gultekin, M, Hahnen, E, Hasenburg, A, Hegmane, A, Heinzelmann, V, Hogdall, E, Janavicius, R, Jarmalaite, S, Kalachand, R, Kaneva, R, Kilickap, S, Kocian, R, Kolencik, D, Kristeleit, R, Kryzhanivska, A, Leary, A, Lemley, B, Ligtenberg, M, Lopez-Guerrero, J, Lord, C, Avall-Lundqvist, E, Maenpaa, J, Mahner, S, Marme, F, Marth, C, Mcneish, I, Merkelbach-Bruse, S, Mourits, M, Normanno, N, Oaknin, A, Ojamaa, K, Papdimitriou, C, Penault-Llorca, F, Perrone, A, Pignata, S, Pikarsky, E, Rouleau, E, Rubio, M, Sapino, A, Schmalfeldt, B, Sehouli, J, Shapira, R, Steffensen, K, Sukhin, V, Syrios, J, Szallasi, Z, Taskiran, C, Terzic, M, Tischkowitz, M, Toth, I, Van de Vijver, K, Vardar, M, Wasag, B, Wimberger, P, Witteveen, E
Rok vydání: 2022
Předmět:
Oncology
medicine.medical_specialty
MAINTENANCE THERAPY
CARCINOMA
Genetic counseling
BRCA
Delphi method
Carcinoma
Ovarian Epithelial

Poly(ADP-ribose) Polymerase Inhibitors
Gene mutation
Settore MED/03 - GENETICA MEDICA
BREAST
DOUBLE-BLIND
BRCA1/2
Internal medicine
Genetic predisposition
Medicine and Health Sciences
Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]
Medicine
Humans
BRCA2 MUTATIONS
OLAPARIB PLUS BEVACIZUMAB
Genetic testing
Ovarian Neoplasms
Ovarian Neoplasms/diagnosis
medicine.diagnostic_test
business.industry
MISMATCH REPAIR DEFICIENCY
PARP inhibition
mainstream genetic testing
Recombinational DNA Repair
Hematology
SOMATIC MUTATIONS
GERMLINE MUTATIONS
Poly(ADP-ribose) Polymerase Inhibitors/pharmacology
medicine.disease
FALLOPIAN-TUBE
Carcinoma
Ovarian Epithelial/genetics

ovarian cancer
homologous recombination deficiency
DNA mismatch repair
Female
business
Homologous recombination
Ovarian cancer
human activities
genetic counselling
Zdroj: Annals of Oncology, 33, 3, pp. 276-87
Vergote, I, González-Martín, A, Ray-Coquard, I, Harter, P, Colombo, N, Pujol, P, Lorusso, D, Mirza, M R, Brasiuniene, B, Madry, R, Brenton, J D, Ausems, M G E M, Büttner, R, Lambrechts, D, European experts’ consensus group & Dahl Steffensen, K 2022, ' European experts consensus : BRCA/homologous recombination deficiency testing in first-line ovarian cancer ', Annals of Oncology, vol. 33, no. 3, pp. 276-287 . https://doi.org/10.1016/j.annonc.2021.11.013
ANNALS OF ONCOLOGY
Annals of Oncology, 33, 276-87
ISSN: 0923-7534
1569-8041
DOI: 10.1016/j.annonc.2021.11.013
Popis: 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. ispartof: ANNALS OF ONCOLOGY vol:33 issue:3 pages:276-287 ispartof: location:England status: published
Databáze: OpenAIRE