{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:56:43Z","timestamp":1753876603095,"version":"3.41.2"},"reference-count":13,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2019,9,19]],"date-time":"2019-09-19T00:00:00Z","timestamp":1568851200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The hereditary cancer syndromes represent overall &lt;10% of all cancers. These syndromes are not irrelevant for public health because all the cancers typical of these syndromes affected young people and many members of the same family and the cancers are more aggressive than the sporadic ones and need specific surgery and medical therapy. We developed a new family assessment tool: STELO designed for family physicians to identify patients could benefit from Cancer Genetic Counselling.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>Test the sensitivity and specificity of a new assessment tool for the correct identification of inherited cancer syndromes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Retrospectively we tested the new tool on a subset of patients who had already undergone genetic counselling at the Cancer Genetic Counselling Service of ASST (Azienda Socio Sanitaria Territoriale) Settelaghi Varese, to investigate sensitivity, specificity and applicability of this new tool in routine genetic screening. STELO responses were matched against the opinion of two cancer geneticists (i.e. gold standard) who blinded each other decided if the history of these patients was properly suspected as a hereditary cancer syndrome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The Genetic Counselling Service followed 546 subjects from 2014 to 2015. STELO tool was tested retrospectively on these clinical records and resulted positive in 418 cases, out of 546 (76.5%). STELO reported, towards the gold standard, 88.5% and 52.3% of sensitivity and specificity, respectively.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>STELO has demonstrated to have a good sensitivity. The specificity was expectedly low given that STELO has been developed for general medicine, so it needs to be simple, practical, of rapid consultation and effectively used in clinical practice.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/fampra\/cmz045","type":"journal-article","created":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T11:15:40Z","timestamp":1565176540000},"source":"Crossref","is-referenced-by-count":0,"title":["STELO: a new tool for family physicians for the correct identification of inherited cancer syndromes"],"prefix":"10.1093","author":[{"given":"Chiara","family":"Mariani","sequence":"first","affiliation":[{"name":"Agenzie di Tutela della Salute dell'Insubria, Cure Primarie via O. Rossi 9 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ileana","family":"Carnevali","sequence":"additional","affiliation":[{"name":"Unit of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Lapi","sequence":"additional","affiliation":[{"name":"Health Search, Italian College of General Practitioners, Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Paganini","sequence":"additional","affiliation":[{"name":"Agenzie di Tutela della Salute dell'Insubria, Cure Primarie via O. Rossi 9 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Civitelli","sequence":"additional","affiliation":[{"name":"Agenzie di Tutela della Salute dell'Insubria, Cure Primarie via O. Rossi 9 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Muzzolon","sequence":"additional","affiliation":[{"name":"Agenzie di Tutela della Salute dell'Insubria, Cure Primarie via O. Rossi 9 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Franzetti","sequence":"additional","affiliation":[{"name":"Agenzie di Tutela della Salute dell'Insubria, Cure Primarie via O. Rossi 9 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Guerroni","sequence":"additional","affiliation":[{"name":"Agenzie di Tutela della Salute dell'Insubria, Cure Primarie via O. Rossi 9 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Grazia","family":"Tibiletti","sequence":"additional","affiliation":[{"name":"Unit of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,9,19]]},"reference":[{"author":"International Agency for Research on Cancer (IARC). 2018","key":"2019091912212624600_CIT0001"},{"key":"2019091912212624600_CIT0002","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1001\/jamaoncol.2016.5688","article-title":"Global, regional, and national cancer incidence, mortality, years of life lost, years lived with disability, and disability-adjusted Life-years for 32 cancer groups, 1990 to 2015: a systematic analysis for the global burden of disease study","volume":"3","author":"Fitzmaurice","year":"2017","journal-title":"JAMA Oncol"},{"key":"2019091912212624600_CIT0003","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1136\/gutjnl-2015-310912","article-title":"Global patterns and trends in colorectal cancer incidence and mortality","volume":"66","author":"Arnold","year":"2017","journal-title":"Gut"},{"volume-title":"AIOM I numeri del Cancro in Italia 2018","author":"Gruppo di lavoro AIOM A, Fondazione AIOM, PASSI","key":"2019091912212624600_CIT0004"},{"key":"2019091912212624600_CIT0005","first-page":"1","article-title":"Concise handbook of familial cancer susceptibility syndrome","volume-title":"J Natl Cancer Inst Monogr","author":"Lindoor","year":"2008"},{"key":"2019091912212624600_CIT0006","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.2009.01230.x","article-title":"Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications","volume":"76","author":"Lynch","year":"2009","journal-title":"Clin Genet"},{"key":"2019091912212624600_CIT0007","doi-asserted-by":"crossref","DOI":"10.1038\/ejhg.2014.193","article-title":"Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) \u2013 update 2014","volume":"23","author":"Aretz","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"2019091912212624600_CIT0008","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/j.1399-0004.2012.01859.x","article-title":"Familial breast cancer","volume":"82","author":"Lalloo","year":"2012","journal-title":"Clin Genet"},{"volume-title":"Breast Cancer and Management of Breast Cancer and Related Risks in People with a Family History of Breast Cancer","year":", :     , 2013","author":"(UK) NCCfC","key":"2019091912212624600_CIT0009"},{"key":"2019091912212624600_CIT0010","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1200\/JCO.2013.51.4661","article-title":"Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative","volume":"32","author":"Wood","year":"2014","journal-title":"J Clin Oncol"},{"key":"2019091912212624600_CIT0011","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s12687-011-0042-4","article-title":"Genetic testing for familial\/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany","volume":"2","author":"Gadzicki","year":"2011","journal-title":"J Community Genet"},{"key":"2019091912212624600_CIT0012","doi-asserted-by":"crossref","first-page":"255","DOI":"10.7326\/M13-1684","article-title":"Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation","volume":"160","author":"Nelson","year":"2014","journal-title":"Ann Intern Med"},{"key":"2019091912212624600_CIT0013","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3310\/hta21510","article-title":"Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation","volume":"21","author":"Snowsill","year":"2017","journal-title":"Health Technol Assess"}],"container-title":["Family Practice"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/fampra\/advance-article-pdf\/doi\/10.1093\/fampra\/cmz045\/30038156\/cmz045.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"}],"deposited":{"date-parts":[[2019,9,19]],"date-time":"2019-09-19T16:22:01Z","timestamp":1568910121000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/fampra\/advance-article\/doi\/10.1093\/fampra\/cmz045\/5571819"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,19]]},"references-count":13,"URL":"https:\/\/doi.org\/10.1093\/fampra\/cmz045","relation":{},"ISSN":["1460-2229"],"issn-type":[{"type":"electronic","value":"1460-2229"}],"subject":[],"published":{"date-parts":[[2019,9,19]]},"article-number":"cmz045"}}