Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives
| Autor: | Nicla La Verde, Fiamma Buttitta, Maria Angela Bella, Massimo Barberis, Ettore Capoluongo, Chiara Trevisiol, Pierosandro Tagliaferri, Enrico Ricevuto, Nicola Normanno, Nicoletta Colombo, Matilde Pensabene, Antonio Russo, Sandro Pignata, Anna Sapino, Domenica Lorusso, Liliana Varesco, Maurizio Genuardi, Lorena Incorvaia, Massimo Gion, Valentina Guarneri, Laura Cortesi, Pierfrancesco Tassone, Paolo Radice, Mauro Truini, Paolo Marchetti, Stefania Gori, Antonio Marchetti, Barbara Pasini, Paola Carrera |
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| Přispěvatelé: | Gori, Stefania, Barberis, Massimo, Bella, Maria Angela, Buttitta, Fiamma, Capoluongo, Ettore, Carrera, Paola, Colombo, Nicoletta, Cortesi, Laura, Genuardi, Maurizio, Gion, Massimo, Guarneri, Valentina, Incorvaia, Lorena, La Verde, Nicla, Lorusso, Domenica, Marchetti, Antonio, Marchetti, Paolo, Normanno, Nicola, Pasini, Barbara, Pensabene, Matilde, Pignata, Sandro, Radice, Paolo, Ricevuto, Enrico, Sapino, Anna, Tagliaferri, Pierosandro, Tassone, Pierfrancesco, Trevisiol, Chiara, Truini, Mauro, Varesco, Liliana, Russo, Antonio, Gori, S., Barberis, M., Bella, M. A., Buttitta, F., Capoluongo, Ettore Domenico, Carrera, P., Colombo, N., Cortesi, L., Genuardi, M., Gion, M., Guarneri, V., Incorvaia, L., La Verde, N., Lorusso, D., Marchetti, A., Marchetti, P., Normanno, N., Pasini, B., Pensabene, M., Pignata, S., Radice, P., Ricevuto, E., Sapino, A., Tagliaferri, P., Tassone, P., Trevisiol, C., Truini, M., Varesco, L., Russo, A., Gori, S, Barberis, M, Bella, M, Buttitta, F, Capoluongo, E, Carrera, P, Colombo, N, Cortesi, L, Genuardi, M, Gion, M, Guarneri, V, Incorvaia, L, La Verde, N, Lorusso, D, Marchetti, A, Marchetti, P, Normanno, N, Pasini, B, Pensabene, M, Pignata, S, Radice, P, Ricevuto, E, Sapino, A, Tagliaferri, P, Tassone, P, Trevisiol, C, Truini, M, Varesco, L, Russo, A |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Oncology Genetic testing endocrine system diseases Settore MED/03 - GENETICA MEDICA Medical Oncology Biochemistry chemistry.chemical_compound 0302 clinical medicine Germline mutation PARP inhibitors Trabectedin Societies Medical Ovarian Neoplasms medicine.diagnostic_test BRCA1 Protein Hematology female genital diseases and pregnancy complications Italy 030220 oncology & carcinogenesis Female medicine.drug Human medicine.medical_specialty Genetic counseling Olaparib 03 medical and health sciences Genetic Somatic mutations Ovarian cancer Medical Internal medicine BRCA1 BRCA2 Germline mutations BRCA2 Protein Genetic Testing Genetics Humans Germ-Line Mutation medicine Genetic predisposition Rucaparib business.industry Somatic mutation Ovarian Neoplasm Cancer medicine.disease 030104 developmental biology PARP inhibitor chemistry Societies business |
| Popis: | The current availability of new Poly(ADP-ribose) Polymerase (PARP)-inhibitors for the treatment of ovarian cancer patients independently of the presence of a BRCA pathogenic variant, together with the validation of somatic test for the analysis of BRCA1/2 genes, involves the need to optimise the guidelines for BRCA testing. The AIOM-SIGU-SIBIOC-SIAPEC-IAP Italian Scientific Societies, in this position paper, recommend the implementation of BRCA testing with 2 main objectives: the first is the identification of ovarian cancer patients with higher probability of benefit from specific anticancer treatments (test for response to therapy); the second goal, through BRCA testing in the family members of ovarian cancer patients, is the identification of carriers of pathogenic variant, who have inheredited predisposition to cancer development (test for cancer risk). These individuals with increased risk of cancer, should be encouraged to participate in dedicated high-risk surveillance clinics and specific risk-reducing measures (primary and/or secondary prevention programs). |
| Databáze: | OpenAIRE |
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