Silvia Sanduleanu-Dascalescu, Gabriel Dimofte, Han-Mo Chiu, Bogdan Cotruta, Stefan Morarasu, Hans Vasen
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One of the central problems lies in the current educational approach, particularly the lack of a curriculum on hereditary cancer syndromes during GI fellowship. Theoretical guidance alone is not actionable—it needs to be backed up by case-based practice with adequate provision both in terms of quantity and of insights. An evidence-based curriculum for achieving mastery standards on LS recognition and management shows early promise in fostering clinical transformation. Using repeat cycles of self-study and case-based practice with real-time feedback, learners can acquire base knowledge and problem-solving clinical decision skills faster and more effectively. This approach leads to a shift in practice. In the context of population screening programs for colorectal cancer (CRC) and gynecological cancers, this strategy can enhance the effectiveness of screening by reducing cancer incidence and mortality. Herein, we propose steps for the integration of LS screening into routine clinical practice, with particular focus on education.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":""},"PeriodicalIF":2.1000,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"From theory to practice: improving Lynch syndrome recognition through evidence-based education.\",\"authors\":\"Silvia Sanduleanu-Dascalescu, Gabriel Dimofte, Han-Mo Chiu, Bogdan Cotruta, Stefan Morarasu, Hans Vasen\",\"doi\":\"10.1007/s10689-026-00534-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Although genomic medicine has improved understanding of Lynch Syndrome (LS), many challenges remain in translating the knowledge in clinical practice. Between 1 in 279 and 400 persons in general population carry a pathogenic mutation in mismatch repair (MMR) genes linked to LS, but the vast majority remain undiagnosed. The clinical implementation gap arises from an interplay between physician factors, patient factors and logistic factors. In the first place, there is limited awareness and limited compliance among practicing physicians who often don’t recognize LS and don’t follow surveillance recommendations, missing opportunities to prevent cancer in affected persons and family members. One of the central problems lies in the current educational approach, particularly the lack of a curriculum on hereditary cancer syndromes during GI fellowship. Theoretical guidance alone is not actionable—it needs to be backed up by case-based practice with adequate provision both in terms of quantity and of insights. An evidence-based curriculum for achieving mastery standards on LS recognition and management shows early promise in fostering clinical transformation. Using repeat cycles of self-study and case-based practice with real-time feedback, learners can acquire base knowledge and problem-solving clinical decision skills faster and more effectively. This approach leads to a shift in practice. In the context of population screening programs for colorectal cancer (CRC) and gynecological cancers, this strategy can enhance the effectiveness of screening by reducing cancer incidence and mortality. Herein, we propose steps for the integration of LS screening into routine clinical practice, with particular focus on education.</p>\",\"PeriodicalId\":12336,\"journal\":{\"name\":\"Familial Cancer\",\"volume\":\"25 1\",\"pages\":\"\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2026-02-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Familial Cancer\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10689-026-00534-7\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Familial Cancer","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10689-026-00534-7","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
From theory to practice: improving Lynch syndrome recognition through evidence-based education.
Although genomic medicine has improved understanding of Lynch Syndrome (LS), many challenges remain in translating the knowledge in clinical practice. Between 1 in 279 and 400 persons in general population carry a pathogenic mutation in mismatch repair (MMR) genes linked to LS, but the vast majority remain undiagnosed. The clinical implementation gap arises from an interplay between physician factors, patient factors and logistic factors. In the first place, there is limited awareness and limited compliance among practicing physicians who often don’t recognize LS and don’t follow surveillance recommendations, missing opportunities to prevent cancer in affected persons and family members. One of the central problems lies in the current educational approach, particularly the lack of a curriculum on hereditary cancer syndromes during GI fellowship. Theoretical guidance alone is not actionable—it needs to be backed up by case-based practice with adequate provision both in terms of quantity and of insights. An evidence-based curriculum for achieving mastery standards on LS recognition and management shows early promise in fostering clinical transformation. Using repeat cycles of self-study and case-based practice with real-time feedback, learners can acquire base knowledge and problem-solving clinical decision skills faster and more effectively. This approach leads to a shift in practice. In the context of population screening programs for colorectal cancer (CRC) and gynecological cancers, this strategy can enhance the effectiveness of screening by reducing cancer incidence and mortality. Herein, we propose steps for the integration of LS screening into routine clinical practice, with particular focus on education.
期刊介绍:
In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers.
Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician.
The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.