ArticleJournal of medical genetics2026
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.
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70 authors.
Arcangela De NicoloDepartment of Experimental Oncology, Unit of Predictive Medicine: Molecular Bases of Genetic Risk, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy arcadenicolo@gmail.com.ORCID http://orcid.org/0000-0002-7275-5571
Diana M EcclesFaculty of Medicine, University of Southampton, Southampton, UK.ORCID http://orcid.org/0000-0002-9935-3169
Kirsimari AaltonenDuodecim Medical Publications Ltd, Helsinki, Finland.
Pia AlhopuroHUS Diagnostic Center, Laboratory of Genetics, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Sarah Louise AriansenDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Michela BiancolellaDepartment of Biology, University of Rome Tor Vergata, Rome, Italy.
Sandrine M CaputoDepartment of Genetics, Institut Curie, Paris, France.ORCID http://orcid.org/0000-0001-5338-9388
Olivier CaronDépartement de Médecine Oncologique, Gustave Roussy, Villejuif, France.
Pietro CavalliMedical Genetics, IRCCS Humanitas Research Hospital, Rozzano (MI), Italy.
Jianbang ChiangDivision of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore.
Kathleen B M ClaesCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Edgar Christian S CuaresmaSt. Luke's Medical Center, Quezon City and Global City, Philippines.
Miguel de la HoyaHospital Clínico San Carlos, Molecular Oncology Laboratory, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain.ORCID http://orcid.org/0000-0002-8113-1410
Antoine De PauwDepartment of Genetics, Institut Curie, Paris, France.ORCID http://orcid.org/0000-0003-3898-073X
Orland DíezVall d'Hebron Hospital Universitari, Area of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Mev Domínguez-ValentinInstitute of Cancer Research, Department of Tumor Biology, The Norwegian Radium Hospital, Oslo, Norway.
Hans EhrencronaDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.ORCID http://orcid.org/0000-0002-5589-3622
Magnhild K FjeldværDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Florentia FostiraINRASTES, Human Molecular Genetics Laboratory, National Centre for Scientific Research-Demokritos, Athens, Greece.
Marie Belle D FranciaSt. Luke's Medical Center, Quezon City and Global City, Philippines.
Javier Galego-CarroFundación Pública Galega de Medicina Xenómica and Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.
Encarna B Gómez GarcíaDepartment of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.
Nur Tiara HassanCancer Research Malaysia, Subang Jaya, Malaysia.
Jan HaukeFaculty of Medicine and Center for Familial Breast and Ovarian Cancer, University of Cologne, University Hospital Cologne, Cologne, Germany.ORCID http://orcid.org/0000-0001-8236-4075
Akira HirasawaGraduate School of Medicine, Dentistry and Pharmaceutical Sciences, Department of Clinical Genomic Medicine, Okayama University, Okayama, Japan.
Xin HuangDepartment of Breast Surgery, Peking Union Medical College Hospital, Beijing, China.
Elaine Marisse H Ilagan-CargulloSt. Luke's Medical Center, Quezon City and Global City, Philippines.
Issei ImotoAichi Cancer Center Research Institute, Nagoya, Japan.
Sowmya JonnagadlaDivision of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore.
Manasadevi KarthikeyanDivision of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore.
Petra KleiblovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.ORCID http://orcid.org/0000-0002-4806-9854
Irene KonstantopoulouINRASTES, Human Molecular Genetics Laboratory, National Centre for Scientific Research-Demokritos, Athens, Greece.
Artur KowalikDepartment of Molecular Diagnostics, Holy Cross Cancer Centre, Kielce, Poland.
Anders KvistDepartment of Clinical Sciences Lund, Division of Oncology, Lund University, Lund, Sweden.ORCID http://orcid.org/0000-0002-1358-0695
Fabienne LesueurPSL Research University, Paris, France.
Shao-Tzu LiDivision of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore.
Adrià López-FernándezHereditary Cancer Genetics Group, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.ORCID http://orcid.org/0000-0002-2844-5998
Eva MachackovaCenter for Medical Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
Alexandra MartinsUniv Rouen Normandie, Inserm U1245, Rouen, France.ORCID http://orcid.org/0000-0003-4322-8497
Arjen R MensenkampDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.ORCID http://orcid.org/0000-0003-3805-877X
Yukihide MomozawaLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Gemma MontalbanDepartment of Oncogenetics, MRC Holland, Amsterdam, Netherlands.ORCID http://orcid.org/0000-0002-6958-4759
Alvaro N A MonteiroDepartment of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.ORCID http://orcid.org/0000-0002-8448-4801
Heli NevanlinnaHUS Diagnostic Center, Laboratory of Genetics, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Joanne NgeowDivision of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore.ORCID http://orcid.org/0000-0003-1558-3627
Edenir Inez PalmeroMolecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.
Inge Sokilde PedersenMolecular Diagnostics and Clinical Cancer Research Centre, Aalborg University Hospital, Aalborg, Denmark.
Frances Victoria F QueSt. Luke's Medical Center, Quezon City and Global City, Philippines.
Marta SantamariñaFundación Pública Galega de Medicina Xenómica and Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.
Elizabeth Santana Dos SantosDepartment of Medical Oncology, A.C. Camargo Cancer Center, São Paulo, Brazil.
Christian F SingerComprehensive Cancer Center, Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria.
Monika SiołekGenetic Clinic, Holy Cross Cancer Centre, Kielce, Poland.
Angela R SolanoDepartmento de Analisis Clinicos, Centro de Educación Médica e Investigaciones Clínicas "Norberto Quirno" (CEMIC), Ciudad Autónoma de Buenos Aires, Argentina.
Jana SoukupovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.ORCID http://orcid.org/0000-0003-2413-1542
Priyadharshini D/O SureshDivision of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore.
Magdalena SzczepaniakDepartment of Molecular Diagnostics, Holy Cross Cancer Centre, Kielce, Poland.
Yen Y TanComprehensive Cancer Center, Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria.
Soo Hwang TeoCancer Research Malaysia, Subang Jaya, Malaysia.ORCID http://orcid.org/0000-0002-0444-590X
Emma ThamDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Georgios TsaousisGenekor Medical S.A, Athens, Greece.
Thomas van Overeem HansenDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-4635-2653
Ana VegaFundación Pública Galega de Medicina Xenómica and Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.ORCID http://orcid.org/0000-0002-7416-5137
Eladio A Velasco-SampedroInstituto de Biología y Genética Molecular, Splicing and Genetic Susceptibility to Cancer, Consejo Superior de Investigaciones Científicas - Universidad de Valladolid (CSIC-UVa), Valladolid, Spain.
Teresia WangensteenDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Barbara WappenschmidtFaculty of Medicine and Center for Familial Breast and Ovarian Cancer, University of Cologne, University Hospital Cologne, Cologne, Germany.
Drakoulis YannoukakosINRASTES, Human Molecular Genetics Laboratory, National Centre for Scientific Research-Demokritos, Athens, Greece.
Sook-Yee YoonCancer Research Malaysia, Subang Jaya, Malaysia.ORCID http://orcid.org/0000-0002-9992-0901
Amanda B SpurdlePopulation Health Program, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Paolo RadiceDepartment of Experimental Oncology, Unit of Predictive Medicine: Molecular Bases of Genetic Risk, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.ORCID http://orcid.org/0000-0001-6298-4111
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic testing for cancer susceptibility underpins precision cancer prevention and care. Gaps in the healthcare providers' genetic literacy and an ambiguous lexicon for variant description may hinder proper delivery and clinical application of consistently trustworthy test results. The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) international consortium supports controlled terminology and recommends a framework for reporting germline variants in cancer susceptibility genes, using breast cancer as an exemplar. Moving forward towards terminological coherence across disciplines and borders, the ENIGMA Clinical Working Group launched a multinational effort to release consortium-approved translations of the published recommendations. The herein reported Vocabulary Translation Project offered an opportunity to reappraise and align the reference text to the recent
Indexed as
Breast NeoplasmsGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationNeoplasmsBRCA1 ProteinBRCA2 ProteinFemaleHumansLanguageTranslationsBRCA1 ProteinBRCA2 ProteinClinical Decision-MakingGenetic CounselingGenetic Predisposition to DiseaseGenetic VariationMolecular Diagnostic Techniques
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