{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T11:09:35Z","timestamp":1785150575544,"version":"3.55.0"},"reference-count":81,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T00:00:00Z","timestamp":1723507200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Ferrara, Ferrara, Italy","award":["FAR 2020 64"],"award-info":[{"award-number":["FAR 2020 64"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["MPs"],"abstract":"<jats:p>Hereditary breast\/ovarian cancer (HBOC) syndrome is caused by the inheritance of monoallelic germline BRCA1\/2 gene mutations. If BRCA1\/2 mutation carriers are identified before the disease develops, effective actions against HBOC can be taken, including intensive screening, risk-reducing mastectomy and salpingo-oophorectomy, and risk-reducing medications. The Italian National Prevention Plan mandates the creation of regional BRCA genetic testing programmes. So far, however, only informal data have been reported on their implementation. We have designed a study aimed at evaluating the results of a population-based programme for risk assessment and genetic counselling and testing for BRCA1\/2-related HBOC that is underway in the Emilia-Romagna region (northern Italy). The programme\u2014which is entirely free\u2014includes basic screening with an estimate of the likelihood of carrying a BRCA1\/2 mutation using a familial risk assessment tool, a closer examination of women with suspected risk increase, an assessment of the need for further genetic counselling and, if needed, genetic testing and risk-reducing interventions. In this paper, the design of the programme and the protocol of the study are presented. The study has an observational, historical cohort design. Eligible are the women found to be at an increased risk of HBOC (profile 3 women). The main objectives are (i) to determine the precision of the programme in measuring the level of risk of HBOC for profile 3 women; (ii) to determine the characteristics of profile 3 women and their association with the risk management strategy chosen; (iii) to compare the age at onset, histologic type, tumour stage, molecular subtype, and prognosis of breast\/ovarian cancers observed in the cohort of profile 3 women with the features of sporadic cancers observed in the general female population; (iv) to determine the level and the determinants of adherence to recommendations; and (v) to determine the appropriateness and timing of risk-reducing surgery and medications. Investigating the quality and results of the programme is necessary because the best practices in risk assessment and genetic counselling and testing for BRCA1\/2-related cancer and the challenges they encounter should be identified and shared. The study has the potential to provide sound empirical evidence for the factors affecting the effectiveness of this type of service.<\/jats:p>","DOI":"10.3390\/mps7040063","type":"journal-article","created":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T10:54:54Z","timestamp":1723546494000},"page":"63","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Evaluation of an Italian Population-Based Programme for Risk Assessment and Genetic Counselling and Testing for BRCA1\/2-Related Hereditary Breast and Ovarian Cancer after 10 Years of Operation: An Observational Study Protocol"],"prefix":"10.3390","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5241-2101","authenticated-orcid":false,"given":"Stefano","family":"Ferretti","sequence":"first","affiliation":[{"name":"Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, 44121 Ferrara, Italy"},{"name":"Local Health Authority, 44121 Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8136-1243","authenticated-orcid":false,"given":"Priscilla","family":"Sassoli de Bianchi","sequence":"additional","affiliation":[{"name":"Department of Health, Emilia-Romagna Region, 40127 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora","family":"Canuti","sequence":"additional","affiliation":[{"name":"Department of Health, Emilia-Romagna Region, 40127 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2535-568X","authenticated-orcid":false,"given":"Cinzia","family":"Campari","sequence":"additional","affiliation":[{"name":"Azienda USL, IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Cortesi","sequence":"additional","affiliation":[{"name":"Struttura di Genetica Oncologica, Dipartimento di Oncologia ed Ematologia, AOU Policlinico di Modena, 41125 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Arcangeli","sequence":"additional","affiliation":[{"name":"Emilia-Romagna Cancer Registry, Romagna Unit, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) Dino Amadori, Meldola, 47014 Forl\u00ec, Italy"},{"name":"Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) Dino Amadori, 47014 Meldola, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Barbieri","sequence":"additional","affiliation":[{"name":"Struttura di Oncologia, Dipartimento di Oncologia ed Ematologia, AOU Policlinico di Modena, 41125 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"D\u2019Aloia","sequence":"additional","affiliation":[{"name":"Section of Radiology and Breast Unit, University Hospital of Parma, 43126 Parma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6535-1608","authenticated-orcid":false,"given":"Rita","family":"Danesi","sequence":"additional","affiliation":[{"name":"Emilia-Romagna Cancer Registry, Romagna Unit, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) Dino Amadori, Meldola, 47014 Forl\u00ec, Italy"},{"name":"Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) Dino Amadori, 47014 Meldola, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierandrea","family":"De Iaco","sequence":"additional","affiliation":[{"name":"Division of Oncologic Gynecology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"De Lillo","sequence":"additional","affiliation":[{"name":"Screening and Spoke Centre, 40026 Imola, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Lombardo","sequence":"additional","affiliation":[{"name":"U.O. Medicina Oncologica, 41012 Carpi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Moretti","sequence":"additional","affiliation":[{"name":"Azienda USL, IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7979-6261","authenticated-orcid":false,"given":"Antonino","family":"Musolino","sequence":"additional","affiliation":[{"name":"Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy"},{"name":"Medical Oncology, Breast Unit and Cancer Genetics Service, University Hospital of Parma, 43126 Parma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dante","family":"Palli","sequence":"additional","affiliation":[{"name":"UOC Chirurgia Generale a Indirizzo Senologico and Breast Unit, 29121 Piacenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-2530-9614","authenticated-orcid":false,"given":"Caterina","family":"Palmonari","sequence":"additional","affiliation":[{"name":"Cancer Screening Centre and Spoke Centre, AUSL Ferrara, 44121 Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mila","family":"Ravegnani","sequence":"additional","affiliation":[{"name":"Emilia-Romagna Cancer Registry, Romagna Unit, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) Dino Amadori, Meldola, 47014 Forl\u00ec, Italy"},{"name":"Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) Dino Amadori, 47014 Meldola, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Taf\u00e0","sequence":"additional","affiliation":[{"name":"UOC Senologia, Ospedale Bellaria, AUSL Bologna, 40139 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Tononi","sequence":"additional","affiliation":[{"name":"Unit\u00e0 Operativa di Prevenzione Oncologica, Ospedale Infermi, 47923 Rimini, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Turchetti","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, Italy"},{"name":"Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Zamagni","sequence":"additional","affiliation":[{"name":"Medical Oncology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7356-8153","authenticated-orcid":false,"given":"Valentina","family":"Zampiga","sequence":"additional","affiliation":[{"name":"Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) Dino Amadori, 47014 Meldola, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6771-8119","authenticated-orcid":false,"given":"Lauro","family":"Bucchi","sequence":"additional","affiliation":[{"name":"Emilia-Romagna Cancer Registry, Romagna Unit, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) Dino Amadori, Meldola, 47014 Forl\u00ec, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the HBOC Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1007\/s12282-020-01148-2","article-title":"Hereditary breast and ovarian cancer (HBOC): Review of its molecular characteristics, screening, treatment, and prognosis","volume":"28","author":"Yoshida","year":"2021","journal-title":"Breast Cancer"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"102668","DOI":"10.1016\/j.dnarep.2019.102668","article-title":"How do mutations affecting the breast cancer genes BRCA1 and BRCA2 cause cancer susceptibility?","volume":"81","author":"Venkitaraman","year":"2019","journal-title":"DNA Repair"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"3254","DOI":"10.1245\/s10434-013-3205-1","article-title":"Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort","volume":"20","author":"Greenup","year":"2013","journal-title":"Ann. 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