{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T12:26:08Z","timestamp":1776515168679,"version":"3.51.2"},"reference-count":45,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T00:00:00Z","timestamp":1751241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: The national guidelines, informed by evidence from the National Institutes of Health (NIH), define the criteria for genetic testing of BRCA1\/2 and other genes associated with Hereditary Breast and Ovarian Cancer (HBOC) and Lynch Syndrome (LS). When a germline pathogenic variant (PV) is identified in an index case, clinical recommendations advise informing at-risk relatives about the availability of predictive genetic testing, as early identification of carriers allows for timely implementation of preventive measures. Methods: This retrospective observational study examined data collected between 2017 and 2024 at the Medical Genetics Unit of the \u201cRenato Dulbecco\u201d University Hospital in Catanzaro, Italy. The analysis focused on trends in the identification of individuals carrying PVs in cancer predisposition genes (CPGs) and the subsequent uptake of cascade genetic testing (CGT) among their family members. Results: Over the study period, from 116 probands were performed 257 CGTs on 251 relatives. A notable reduction of approximately ten years in median age was observed, 39% were found to carry familial mutation and were referred to personalized cancer prevention programs. Among these, 62% accessed Oncological Genetic Counselling (CGO) within one year of the proband\u2019s diagnosis, suggesting effective communication and outreach. Conclusions: The findings highlight the critical role of effective CGO and intrafamilial communication in hereditary cancer prevention. The identification of PVs, followed by timely CGTs and implementation of preventive strategies, significantly contributes to early cancer risk management. Periodic monitoring of CGT uptake and outcome trends, as demonstrated in this study, is essential to refine and optimize genetic services and public health strategies.<\/jats:p>","DOI":"10.3390\/genes16070795","type":"journal-article","created":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T10:45:08Z","timestamp":1751366708000},"page":"795","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy"],"prefix":"10.3390","volume":"16","author":[{"given":"Anna","family":"Bilotta","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4393-8175","authenticated-orcid":false,"given":"Elisa","family":"Lo Feudo","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"},{"name":"Department of Clinical and Experimental Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8331-5723","authenticated-orcid":false,"given":"Valentina","family":"Rocca","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"},{"name":"Department of Clinical and Experimental Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Colao","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Dinatolo","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serena Marianna","family":"Lavano","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Malatesta","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8288-9784","authenticated-orcid":false,"given":"Lucia","family":"D\u2019Antona","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"},{"name":"Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7162-1099","authenticated-orcid":false,"given":"Rosario","family":"Amato","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"},{"name":"Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Trapasso","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"},{"name":"Department of Clinical and Experimental Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8836-5386","authenticated-orcid":false,"given":"Nicola","family":"Perrotti","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"},{"name":"Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Viglietto","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"},{"name":"Department of Clinical and Experimental Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8976-8088","authenticated-orcid":false,"given":"Francesco","family":"Baudi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"},{"name":"Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodolfo","family":"Iuliano","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy"},{"name":"Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Mandelker, D., Zhang, L., Kemel, Y., Stadler, Z.K., Joseph, V., Zehir, A., Pradhan, N., Arnold, A., Walsh, M.F., and Li, Y. (2017). Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. J. Am. Med. Assoc., 318.","DOI":"10.1001\/jama.2017.11137"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Tsaousis, G.N., Papadopoulou, E., Apessos, A., Agiannitopoulos, K., Pepe, G., Kampouri, S., Diamantopoulos, N., Floros, T., Iosifidou, R., and Katopodi, O. (2019). Analysis of Hereditary Cancer Syndromes by Using a Panel of Genes: Novel and Multiple Pathogenic Mutations. 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