{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T03:03:56Z","timestamp":1783479836237,"version":"3.55.0"},"reference-count":22,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2022,11,11]]},"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:sec>\n                  <jats:title>Background\/Objectives<\/jats:title>\n                  <jats:p>Exome sequencing may identify pathogenic variants unrelated with the purpose of the analysis. We investigated the frequency of secondary and incidental findings (SF\/IF) in cancer susceptibility genes (CSG), their clinical actionability and the psychological impact in individuals with an SF\/IF (cases) compared with individuals tested due to their cancer history (controls).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>This study analysed 533 exomes ordered for non-cancer conditions. Medical records were reviewed for clinical actionability of SF\/IF. Psychological impact was analysed using the Multidimensional Impact of Cancer Risk Assessment (MICRA) scale and compared between cases and controls with a propensity score weighting method.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The frequency of SF\/IF in CSG was 2.1% (95% CI 1.1% to 3.8%): three <jats:italic>BRCA2<\/jats:italic>, three <jats:italic>PMS2<\/jats:italic>, two <jats:italic>SDHB<\/jats:italic>, and one each in <jats:italic>BRCA1<\/jats:italic>, <jats:italic>MLH1<\/jats:italic> and <jats:italic>RAD51C<\/jats:italic>. Among the relatives, 18 were carriers. Twenty enrolled for surveillance, and a neoplasm was diagnosed in 20%: three paragangliomas and one breast cancer. Cases presented higher MICRA mean scores than controls (21.3 vs 16.2 in MICRA total score, 6.3 vs 4.2 in the distress subscale, and 8.3 vs 6.6 in the uncertainty subscale; all p&lt;0.001).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>SF\/IF in CSG were identified in 2.1% of patients. Despite a numerically higher psychological impact, the identification of SF\/IF allowed early detection and cancer prevention in families without cancer history.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2022-108929","type":"journal-article","created":{"date-parts":[[2022,11,29]],"date-time":"2022-11-29T13:23:46Z","timestamp":1669728226000},"page":"685-691","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1964-7675","authenticated-orcid":false,"given":"Estela","family":"Carrasco","sequence":"first","affiliation":[{"name":"Hereditary Cancer Genetics Group, Medical Oncology Department, Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain"},{"name":"Department of Pediatrics, Obstetrics and Gynecology, Preventative Medicine and Public Health, Autonomous University of Barcelona, Barcelona, Spain"},{"name":"Hereditary Cancer Genetics Group, Medical oncology, Vall d\u2019Hebron Institute of Oncology (VHIO), Vall d\u2019Hebron Barcelona Hospital Campus, C\/ Natzaret, 115-117, 08035, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2844-5998","authenticated-orcid":false,"given":"Adri\u00e0","family":"L\u00f3pez-Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Genetics Group, Medical Oncology Department, Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain"},{"name":"Hereditary Cancer Genetics Group, Medical oncology, Vall d\u2019Hebron Institute of Oncology (VHIO), Vall d\u2019Hebron Barcelona Hospital Campus, C\/ Natzaret, 115-117, 08035, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Codina-Sola","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain"},{"name":"Medicine Genetics Group, Vall d\u2019Hebron Institut de Recerca (VHIR), Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain"},{"name":"Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016\/739516], ERN-ITHACA, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Valenzuela","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain"},{"name":"Medicine Genetics Group, Vall d\u2019Hebron Institut de Recerca (VHIR), Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain"},{"name":"Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016\/739516], ERN-ITHACA, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AM","family":"Cueto-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain"},{"name":"Medicine Genetics Group, Vall d\u2019Hebron Institut de Recerca (VHIR), Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain"},{"name":"Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016\/739516], ERN-ITHACA, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillermo","family":"Villacampa","sequence":"additional","affiliation":[{"name":"Oncology Data Science (ODysSey) Group, Vall d\u2019Hebron Institute of Oncology (VHIO), Vall d\u2019Hebron Barcelona Hospital Campus, C\/ Natzaret, 115-117, 08035, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Navarro","sequence":"additional","affiliation":[{"name":"Oncology Data Science (ODysSey) Group, Vall d\u2019Hebron Institute of Oncology (VHIO), Vall d\u2019Hebron Barcelona Hospital Campus, C\/ Natzaret, 115-117, 08035, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Torres-Esquius","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Genetics Group, Medical oncology, Vall d\u2019Hebron Institute of Oncology (VHIO), Vall d\u2019Hebron Barcelona Hospital Campus, C\/ Natzaret, 115-117, 08035, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolors","family":"Palau","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain"},{"name":"Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016\/739516], ERN-ITHACA, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara","family":"Cruellas","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Genetics Group, Medical Oncology Department, Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain"},{"name":"Hereditary Cancer Genetics Group, Medical oncology, Vall d\u2019Hebron Institute of Oncology (VHIO), Vall d\u2019Hebron Barcelona Hospital Campus, C\/ Natzaret, 115-117, 08035, Barcelona, 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Original research article clinical application of whole-exome sequencing across clinical indications. 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