{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T00:20:53Z","timestamp":1789777253834,"version":"4.0.1"},"reference-count":26,"publisher":"BMJ","issue":"12","funder":[{"DOI":"10.13039\/501100000163","name":"Pediatric Oncology Group of Ontario","doi-asserted-by":"publisher","award":["Research fellowship grant"],"award-info":[{"award-number":["Research fellowship grant"]}],"id":[{"id":"10.13039\/501100000163","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fonds de Recherche du Quebec - Sant\u00e9","award":["253761"],"award-info":[{"award-number":["253761"]}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["407997"],"award-info":[{"award-number":["407997"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2023,6,26]]},"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Cancer predisposition syndromes (CPSs) are responsible for at least 10% of cancer diagnoses in children and adolescents, most of which are not clinically recognised prior to cancer diagnosis. A variety of clinical screening guidelines are used in healthcare settings to help clinicians detect patients who have a higher likelihood of having a CPS. The McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) is an electronic health decision support tool that uses algorithms to help clinicians determine if a child\/adolescent diagnosed with cancer should be referred to genetics for a CPS evaluation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>This study assessed MIPOGG\u2019s performance in identifying Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin (nevoid basal cell carcinoma) syndromes in a retrospective series of 84 children diagnosed with cancer and one of these four CPSs in Canadian hospitals over an 18-year period.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>MIPOGG detected 82 of 83 (98.8%) evaluable patients with any one of these four genetic conditions and demonstrated an appropriate rationale for suggesting CPS evaluation. When compared with syndrome-specific clinical screening criteria, MIPOGG\u2019s ability to correctly identify children with any of the four CPSs was equivalent to, or outperformed, existing clinical criteria respective to each CPS.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This study adds evidence that MIPOGG is an appropriate tool for CPS screening in clinical practice. MIPOGG\u2019s strength is that it starts with a specific cancer diagnosis and incorporates criteria relevant for associated CPSs, making MIPOGG a more universally accessible diagnostic adjunct that does not require in-depth knowledge of each CPS.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2023-109376","type":"journal-article","created":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T13:20:43Z","timestamp":1689600043000},"page":"1218-1223","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes"],"prefix":"10.1136","volume":"60","author":[{"given":"Robyn","family":"Hebert","sequence":"first","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, Qu\u00e9bec, Canada"},{"name":"Genetic Counselling Services, Sudbury Regional Hospital, Sudbury, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noelle","family":"Cullinan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology-Oncology, Children's Health Ireland, Dublin, Ireland"},{"name":"Department of Pediatrics, Division of Hematology\/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linlea","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine A","family":"Blood","sequence":"additional","affiliation":[{"name":"Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada"},{"name":"Hereditary Cancer Program, BC Cancer Agency, Vancouver, British Columbia, 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