Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

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Title: Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.
Authors: De Nicolo A; Department of Experimental Oncology, Unit of Predictive Medicine: Molecular Bases of Genetic Risk, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy arcadenicolo@gmail.com.; Institute of Oncology and Molecular Genetics, Riga Stradins University, Riga, Latvia., Eccles DM; Faculty of Medicine, University of Southampton, Southampton, UK., Aaltonen K; Duodecim Medical Publications Ltd, Helsinki, Finland.; Department of Clinical Genetics, Tampere University Hospital, Tampere, Finland., Alhopuro P; HUS Diagnostic Center, Laboratory of Genetics, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Ariansen SL; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Biancolella M; Department of Biology, University of Rome Tor Vergata, Rome, Italy.; Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy., Caputo SM; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Caron O; Département de Médecine Oncologique, Gustave Roussy, Villejuif, France., Cavalli P; Medical Genetics, IRCCS Humanitas Research Hospital, Rozzano (MI), Italy., Chiang J; Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore., Claes KBM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine and CRIG (Cancer Research Institute Ghent), Ghent University, Ghent, Belgium., Cuaresma ECS; St. Luke's Medical Center, Quezon City and Global City, Philippines., de la Hoya M; Hospital Clínico San Carlos, Molecular Oncology Laboratory, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain., De Pauw A; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Díez O; Vall d'Hebron Hospital Universitari, Area of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Hereditary Cancer Genetics Group, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Domínguez-Valentin M; Institute of Cancer Research, Department of Tumor Biology, The Norwegian Radium Hospital, Oslo, Norway., Ehrencrona H; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.; Department of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund, Sweden., Fjeldvær MK; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Fostira F; INRASTES, Human Molecular Genetics Laboratory, National Centre for Scientific Research-Demokritos, Athens, Greece., Francia MBD; St. Luke's Medical Center, Quezon City and Global City, Philippines., Galego-Carro J; Fundación Pública Galega de Medicina Xenómica and Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain., Gómez García EB; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; GROW School for Oncology & Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands., Hassan NT; Cancer Research Malaysia, Subang Jaya, Malaysia., Hauke J; Faculty of Medicine and Center for Familial Breast and Ovarian Cancer, University of Cologne, University Hospital Cologne, Cologne, Germany.; Faculty of Medicine and Center for Integrated Oncology (CIO), University of Cologne, University Hospital Cologne, Cologne, Germany., Hirasawa A; Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Department of Clinical Genomic Medicine, Okayama University, Okayama, Japan., Huang X; Department of Breast Surgery, Peking Union Medical College Hospital, Beijing, China., Ilagan-Cargullo EMH; St. Luke's Medical Center, Quezon City and Global City, Philippines., Imoto I; Aichi Cancer Center Research Institute, Nagoya, Japan., Jonnagadla S; Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore., Karthikeyan M; Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore., Kleiblova P; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Konstantopoulou I; INRASTES, Human Molecular Genetics Laboratory, National Centre for Scientific Research-Demokritos, Athens, Greece., Kowalik A; Department of Molecular Diagnostics, Holy Cross Cancer Centre, Kielce, Poland.; Division of Medical Biology, Institute of Biology Jan Kochanowski University, Kielce, Poland., Kvist A; Department of Clinical Sciences Lund, Division of Oncology, Lund University, Lund, Sweden., Lesueur F; PSL Research University, Paris, France.; Inserm U1331, Institut Curie, Mines Paris, Paris, France., Li ST; Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore., López-Fernández A; Hereditary Cancer Genetics Group, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Machackova E; Center for Medical Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic., Martins A; Univ Rouen Normandie, Inserm U1245, Rouen, France., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Momozawa Y; Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan., Montalban G; Department of Oncogenetics, MRC Holland, Amsterdam, Netherlands., Monteiro ANA; Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA., Nevanlinna H; HUS Diagnostic Center, Laboratory of Genetics, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Ngeow J; Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore.; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore., Palmero EI; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.; Department of Genetics, Brazilian National Cancer Institute, Rio de Janeiro, Brazil., Pedersen IS; Molecular Diagnostics and Clinical Cancer Research Centre, Aalborg University Hospital, Aalborg, Denmark.; Department of Medicine, Aalborg University, Aalborg, Denmark., Que FVF; St. Luke's Medical Center, Quezon City and Global City, Philippines., Santamariña M; Fundación Pública Galega de Medicina Xenómica and Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain., Santana Dos Santos E; Department of Medical Oncology, A.C. Camargo Cancer Center, São Paulo, Brazil.; Oncology Center, Hospital Sirio-Libanes, São Paulo, Brazil., Singer CF; Comprehensive Cancer Center, Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria., Siołek M; Genetic Clinic, Holy Cross Cancer Centre, Kielce, Poland., Solano AR; Departmento de Analisis Clinicos, Centro de Educación Médica e Investigaciones Clínicas 'Norberto Quirno' (CEMIC), Ciudad Autónoma de Buenos Aires, Argentina., Soukupova J; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Suresh PD; Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore., Szczepaniak M; Department of Molecular Diagnostics, Holy Cross Cancer Centre, Kielce, Poland., Tan YY; Comprehensive Cancer Center, Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria., Teo SH; Cancer Research Malaysia, Subang Jaya, Malaysia., Tham E; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden., Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, Human Genetics, Clinical Genome Center, University of Southern Denmark, Odense, Denmark., Tsaousis G; Genekor Medical S.A, Athens, Greece., Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen Faculty of Health and Medical Sciences, Copenhagen, Denmark., Vega A; Fundación Pública Galega de Medicina Xenómica and Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Velasco-Sampedro EA; Instituto de Biología y Genética Molecular, Splicing and Genetic Susceptibility to Cancer, Consejo Superior de Investigaciones Científicas - Universidad de Valladolid (CSIC-UVa), Valladolid, Spain., Wangensteen T; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Wappenschmidt B; Faculty of Medicine and Center for Familial Breast and Ovarian Cancer, University of Cologne, University Hospital Cologne, Cologne, Germany.; Faculty of Medicine and Center for Integrated Oncology (CIO), University of Cologne, University Hospital Cologne, Cologne, Germany., Yannoukakos D; INRASTES, Human Molecular Genetics Laboratory, National Centre for Scientific Research-Demokritos, Athens, Greece., Yoon SY; Cancer Research Malaysia, Subang Jaya, Malaysia., Spurdle AB; Population Health Program, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia., Radice P; Department of Experimental Oncology, Unit of Predictive Medicine: Molecular Bases of Genetic Risk, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Source: Journal of medical genetics [J Med Genet] 2026 Jul 16. Date of Electronic Publication: 2026 Jul 16.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1468-6244
DOI:10.1136/jmg-2026-111498