Cohort-based association study of germline genetic variants with acute and chronic health complications of childhood cancer and its treatment: Genetic Risks for Childhood Cancer Complications Switzerland (GECCOS) study protocol
| Autor: | Nicolas Waespe, Sven Strebel, Tiago Nava, Chakradhara Rao S Uppugunduri, Denis Marino, Veneranda Mattiello, Maria Otth, Fabienne Gumy-Pause, André O Von Bueren, Frederic Baleydier, Luzius Mader, Adrian Spoerri, Claudia E Kuehni, Marc Ansari |
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| Přispěvatelé: | University of Zurich, Ansari, Marc |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Adult
cancer genetics 610 Medicine & health 2700 General Medicine Cohort Studies paediatric clinical genetics & dysmorphology Young Adult 360 Social problems & social services Neoplasms Humans genetics Child Multimorbidity Paediatrics General Medicine adverse events Cross-Sectional Studies Germ Cells paediatric oncology 10036 Medical Clinic Quality of Life Medicine clinical pharmacology Switzerland |
| Zdroj: | BMJ Open, Vol 12, Iss 1 (2022) BMJ Open Waespe, Nicolas; Strebel, Sven; Nava, Tiago; Uppugunduri, Chakradhara Rao S; Marino, Denis; Mattiello, Veneranda; Otth, Maria; Gumy-Pause, Fabienne; Von Bueren, André O; Baleydier, Frederic; Mader, Luzius; Spoerri, Adrian; Kuehni, Claudia E; Ansari, Marc (2022). Cohort-based association study of germline genetic variants with acute and chronic health complications of childhood cancer and its treatment: Genetic Risks for Childhood Cancer Complications Switzerland (GECCOS) study protocol. BMJ open, 12(1), e052131. BMJ Publishing Group 10.1136/bmjopen-2021-052131 |
| ISSN: | 2044-6055 |
| DOI: | 10.1136/bmjopen-2021-052131 |
| Popis: | IntroductionChildhood cancer and its treatment may lead to various health complications. Related impairment in quality of life, excess in deaths and accumulated healthcare costs are relevant. Genetic variations are suggested to contribute to the wide inter-individual variability of complications but have been used only rarely to risk-stratify treatment and follow-up care. This study aims to identify germline genetic variants associated with acute and late complications of childhood cancer.Methods and analysisThe Genetic Risks for Childhood Cancer Complications Switzerland (GECCOS) study is a nationwide cohort study. Eligible are patients and survivors who were diagnosed with childhood cancers or Langerhans cell histiocytosis before age 21 years, were registered in the Swiss Childhood Cancer Registry (SCCR) since 1976 and have consented to the Paediatric Biobank for Research in Haematology and Oncology, Geneva, host of the national Germline DNA Biobank Switzerland for Childhood Cancer and Blood Disorders (BISKIDS).GECCOS uses demographic and clinical data from the SCCR and the associated Swiss Childhood Cancer Survivor Study. Clinical outcome data consists of organ function testing, health conditions diagnosed by physicians, second primary neoplasms and self-reported information from participants. Germline genetic samples and sequencing data are collected in BISKIDS. We will perform association analyses using primarily whole-exome or whole-genome sequencing to identify genetic variants associated with specified health conditions. We will use clustering and machine-learning techniques and assess multiple health conditions in different models.DiscussionGECCOS will improve knowledge of germline genetic variants associated with childhood cancer-associated health conditions and help to further individualise cancer treatment and follow-up care, potentially resulting in improved efficacy and reduced side effects.Ethics and disseminationThe Geneva Cantonal Commission for Research Ethics has approved the GECCOS study.Research findings will be disseminated through national and international conferences, publications in peer-reviewed journals and in lay language online.Trial registration numberNCT04702321. |
| Databáze: | OpenAIRE |
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