{
  "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 BRCA1 and BRCA2 specifications to the American College of Medical Genetics and Genomics/Association for Molecular Pathology rules by the ENIGMA Variant Curation Expert Panel and to highlight country-specific differences in breast cancer risk assessment and management. The updated recommendations and their 20 translations are now provided as easy to handle documents, covering 11 of the most widely spoken languages in the world. They will contribute to minimised erroneous inferences, more informed decision-making, improved health outcomes and equity in the use of genetic testing for cancer predisposition and in translational oncology.",
  "authors": [
    {
      "affiliations": [
        "Department of Experimental Oncology, Unit of Predictive Medicine: Molecular Bases of Genetic Risk, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy",
        "Institute of Oncology and Molecular Genetics, Riga Stradins University, Riga, Latvia"
      ],
      "name": "Arcangela De Nicolo"
    },
    {
      "affiliations": [
        "Faculty of Medicine, University of Southampton, Southampton, UK"
      ],
      "name": "Diana M Eccles"
    },
    {
      "affiliations": [
        "Duodecim Medical Publications Ltd, Helsinki, Finland",
        "Department of Clinical Genetics, Tampere University Hospital, Tampere, Finland"
      ],
      "name": "Kirsimari Aaltonen"
    },
    {
      "affiliations": [
        "HUS Diagnostic Center, Laboratory of Genetics, Helsinki University Hospital and University of Helsinki, Helsinki, Finland"
      ],
      "name": "Pia Alhopuro"
    },
    {
      "affiliations": [
        "Department of Medical Genetics, Oslo University Hospital, Oslo, Norway"
      ],
      "name": "Sarah Louise Ariansen"
    },
    {
      "affiliations": [
        "Department of Biology, University of Rome Tor Vergata, Rome, Italy",
        "Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy"
      ],
      "name": "Michela Biancolella"
    },
    {
      "affiliations": [
        "Department of Genetics, Institut Curie, Paris, France",
        "PSL Research University, Paris, France"
      ],
      "name": "Sandrine M Caputo"
    },
    {
      "affiliations": [
        "Département de Médecine Oncologique, Gustave Roussy, Villejuif, France"
      ],
      "name": "Olivier Caron"
    },
    {
      "affiliations": [
        "Medical Genetics, IRCCS Humanitas Research Hospital, Rozzano (MI), Italy"
      ],
      "name": "Pietro Cavalli"
    },
    {
      "affiliations": [
        "Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Jianbang Chiang"
    },
    {
      "affiliations": [
        "Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium",
        "Department of Biomolecular Medicine and CRIG (Cancer Research Institute Ghent), Ghent University, Ghent, Belgium"
      ],
      "name": "Kathleen B M Claes"
    },
    {
      "affiliations": [
        "St. Luke’s Medical Center, Quezon City and Global City, Philippines"
      ],
      "name": "Edgar Christian S Cuaresma"
    },
    {
      "affiliations": [
        "Hospital Clínico San Carlos, Molecular Oncology Laboratory, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain"
      ],
      "name": "Miguel de la Hoya"
    },
    {
      "affiliations": [
        "Department of Genetics, Institut Curie, Paris, France",
        "PSL Research University, Paris, France"
      ],
      "name": "Antoine De Pauw"
    },
    {
      "affiliations": [
        "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"
      ],
      "name": "Orland Díez"
    },
    {
      "affiliations": [
        "Institute of Cancer Research, Department of Tumor Biology, The Norwegian Radium Hospital, Oslo, Norway"
      ],
      "name": "Mev Domínguez-Valentin"
    },
    {
      "affiliations": [
        "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"
      ],
      "name": "Hans Ehrencrona"
    },
    {
      "affiliations": [
        "Department of Medical Genetics, Oslo University Hospital, Oslo, Norway"
      ],
      "name": "Magnhild K Fjeldvær"
    },
    {
      "affiliations": [
        "INRASTES, Human Molecular Genetics Laboratory, National Centre for Scientific Research-Demokritos, Athens, Greece"
      ],
      "name": "Florentia Fostira"
    },
    {
      "affiliations": [
        "St. Luke’s Medical Center, Quezon City and Global City, Philippines"
      ],
      "name": "Marie Belle D Francia"
    },
    {
      "affiliations": [
        "Fundación Pública Galega de Medicina Xenómica and Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain"
      ],
      "name": "Javier Galego-Carro"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands",
        "GROW School for Oncology & Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands"
      ],
      "name": "Encarna B Gómez García"
    },
    {
      "affiliations": [
        "Cancer Research Malaysia, Subang Jaya, Malaysia"
      ],
      "name": "Nur Tiara Hassan"
    },
    {
      "affiliations": [
        "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"
      ],
      "name": "Jan Hauke"
    },
    {
      "affiliations": [
        "Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Department of Clinical Genomic Medicine, Okayama University, Okayama, Japan"
      ],
      "name": "Akira Hirasawa"
    },
    {
      "affiliations": [
        "Department of Breast Surgery, Peking Union Medical College Hospital, Beijing, China"
      ],
      "name": "Xin Huang"
    },
    {
      "affiliations": [
        "St. Luke’s Medical Center, Quezon City and Global City, Philippines"
      ],
      "name": "Elaine Marisse H Ilagan-Cargullo"
    },
    {
      "affiliations": [
        "Aichi Cancer Center Research Institute, Nagoya, Japan"
      ],
      "name": "Issei Imoto"
    },
    {
      "affiliations": [
        "Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Sowmya Jonnagadla"
    },
    {
      "affiliations": [
        "Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Manasadevi Karthikeyan"
    },
    {
      "affiliations": [
        "Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic"
      ],
      "name": "Petra Kleiblova"
    },
    {
      "affiliations": [
        "INRASTES, Human Molecular Genetics Laboratory, National Centre for Scientific Research-Demokritos, Athens, Greece"
      ],
      "name": "Irene Konstantopoulou"
    },
    {
      "affiliations": [
        "Department of Molecular Diagnostics, Holy Cross Cancer Centre, Kielce, Poland",
        "Division of Medical Biology, Institute of Biology Jan Kochanowski University, Kielce, Poland"
      ],
      "name": "Artur Kowalik"
    },
    {
      "affiliations": [
        "Department of Clinical Sciences Lund, Division of Oncology, Lund University, Lund, Sweden"
      ],
      "name": "Anders Kvist"
    },
    {
      "affiliations": [
        "PSL Research University, Paris, France",
        "Inserm U1331, Institut Curie, Mines Paris, Paris, France"
      ],
      "name": "Fabienne Lesueur"
    },
    {
      "affiliations": [
        "Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Shao-Tzu Li"
    },
    {
      "affiliations": [
        "Hereditary Cancer Genetics Group, Vall d’Hebron Barcelona Hospital Campus, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain"
      ],
      "name": "Adrià López-Fernández"
    },
    {
      "affiliations": [
        "Center for Medical Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic"
      ],
      "name": "Eva Machackova"
    },
    {
      "affiliations": [
        "Univ Rouen Normandie, Inserm U1245, Rouen, France"
      ],
      "name": "Alexandra Martins"
    },
    {
      "affiliations": [
        "Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands"
      ],
      "name": "Arjen R Mensenkamp"
    },
    {
      "affiliations": [
        "Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan"
      ],
      "name": "Yukihide Momozawa"
    },
    {
      "affiliations": [
        "Department of Oncogenetics, MRC Holland, Amsterdam, Netherlands"
      ],
      "name": "Gemma Montalban"
    },
    {
      "affiliations": [
        "Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA"
      ],
      "name": "Alvaro N A Monteiro"
    },
    {
      "affiliations": [
        "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"
      ],
      "name": "Heli Nevanlinna"
    },
    {
      "affiliations": [
        "Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore",
        "Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore"
      ],
      "name": "Joanne Ngeow"
    },
    {
      "affiliations": [
        "Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil",
        "Department of Genetics, Brazilian National Cancer Institute, Rio de Janeiro, Brazil"
      ],
      "name": "Edenir Inez Palmero"
    },
    {
      "affiliations": [
        "Molecular Diagnostics and Clinical Cancer Research Centre, Aalborg University Hospital, Aalborg, Denmark",
        "Department of Medicine, Aalborg University, Aalborg, Denmark"
      ],
      "name": "Inge Sokilde Pedersen"
    },
    {
      "affiliations": [
        "St. Luke’s Medical Center, Quezon City and Global City, Philippines"
      ],
      "name": "Frances Victoria F Que"
    },
    {
      "affiliations": [
        "Fundación Pública Galega de Medicina Xenómica and Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain"
      ],
      "name": "Marta Santamariña"
    },
    {
      "affiliations": [
        "Department of Medical Oncology, A.C. Camargo Cancer Center, São Paulo, Brazil",
        "Oncology Center, Hospital Sirio-Libanes, São Paulo, Brazil"
      ],
      "name": "Elizabeth Santana dos Santos"
    },
    {
      "affiliations": [
        "Comprehensive Cancer Center, Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria"
      ],
      "name": "Christian F Singer"
    },
    {
      "affiliations": [
        "Genetic Clinic, Holy Cross Cancer Centre, Kielce, Poland"
      ],
      "name": "Monika Siołek"
    },
    {
      "affiliations": [
        "Departmento de Analisis Clinicos, Centro de Educación Médica e Investigaciones Clínicas \"Norberto Quirno\" (CEMIC), Ciudad Autónoma de Buenos Aires, Argentina"
      ],
      "name": "Angela R Solano"
    },
    {
      "affiliations": [
        "Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic"
      ],
      "name": "Jana Soukupova"
    },
    {
      "affiliations": [
        "Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore"
      ],
      "name": "Priyadharshini d/o Suresh"
    },
    {
      "affiliations": [
        "Department of Molecular Diagnostics, Holy Cross Cancer Centre, Kielce, Poland"
      ],
      "name": "Magdalena Szczepaniak"
    },
    {
      "affiliations": [
        "Comprehensive Cancer Center, Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria"
      ],
      "name": "Yen Y Tan"
    },
    {
      "affiliations": [
        "Cancer Research Malaysia, Subang Jaya, Malaysia"
      ],
      "name": "Soo Hwang Teo"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden",
        "Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden"
      ],
      "name": "Emma Tham"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, Odense University Hospital, Odense, Denmark",
        "Department of Clinical Research, Human Genetics, Clinical Genome Center, University of Southern Denmark, Odense, Denmark"
      ],
      "name": "Mads Thomassen"
    },
    {
      "affiliations": [
        "Genekor Medical S.A, Athens, Greece"
      ],
      "name": "Georgios Tsaousis"
    },
    {
      "affiliations": [
        "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"
      ],
      "name": "Thomas van Overeem Hansen"
    },
    {
      "affiliations": [
        "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"
      ],
      "name": "Ana Vega"
    },
    {
      "affiliations": [
        "Instituto de Biología y Genética Molecular, Splicing and Genetic Susceptibility to Cancer, Consejo Superior de Investigaciones Científicas - Universidad de Valladolid (CSIC-UVa), Valladolid, Spain"
      ],
      "name": "Eladio A Velasco-Sampedro"
    },
    {
      "affiliations": [
        "Department of Medical Genetics, Oslo University Hospital, Oslo, Norway"
      ],
      "name": "Teresia Wangensteen"
    },
    {
      "affiliations": [
        "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"
      ],
      "name": "Barbara Wappenschmidt"
    },
    {
      "affiliations": [
        "INRASTES, Human Molecular Genetics Laboratory, National Centre for Scientific Research-Demokritos, Athens, Greece"
      ],
      "name": "Drakoulis Yannoukakos"
    },
    {
      "affiliations": [
        "Cancer Research Malaysia, Subang Jaya, Malaysia"
      ],
      "name": "Sook-Yee Yoon"
    },
    {
      "affiliations": [
        "Population Health Program, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia",
        "Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Amanda B Spurdle"
    },
    {
      "affiliations": [
        "Department of Experimental Oncology, Unit of Predictive Medicine: Molecular Bases of Genetic Risk, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy"
      ],
      "name": "Paolo Radice"
    }
  ],
  "title": "Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages",
  "uid": "8fcd320d-320a-5319-b1ae-6a2fdde62074"
}