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Journal of medical genetics · 2026

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

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De Nicolo Arcangela, Eccles Diana M, Aaltonen Kirsimari, Alhopuro Pia, Ariansen Sarah Louise, Biancolella Michela, Caputo Sandrine M, Caron Olivier, Cavalli Pietro, Chiang Jianbang, Claes Kathleen B M, Cuaresma Edgar Christian S, de la Hoya Miguel, De Pauw Antoine, Díez Orland, Domínguez-Valentin Mev, Ehrencrona Hans, Fjeldvær Magnhild K, Fostira Florentia, Francia Marie Belle D, Galego-Carro Javier, Gómez García Encarna B, Hassan Nur Tiara, Hauke Jan, Hirasawa Akira, Huang Xin, Ilagan-Cargullo Elaine Marisse H, Imoto Issei, Jonnagadla Sowmya, Karthikeyan Manasadevi, Kleiblova Petra, Konstantopoulou Irene, Kowalik Artur, Kvist Anders, Lesueur Fabienne, Li Shao-Tzu, López-Fernández Adrià, Machackova Eva, Martins Alexandra, Mensenkamp Arjen R, Momozawa Yukihide, Montalban Gemma, Monteiro Alvaro N A, Nevanlinna Heli, Ngeow Joanne, Palmero Edenir Inez, Pedersen Inge Sokilde, Que Frances Victoria F, Santamariña Marta, Santana Dos Santos Elizabeth, Singer Christian F, Siołek Monika, Solano Angela R, Soukupova Jana, Suresh Priyadharshini D/O, Szczepaniak Magdalena, Tan Yen Y, Teo Soo Hwang, Tham Emma, Thomassen Mads, Tsaousis Georgios, Hansen Thomas van Overeem, Vega Ana, Velasco-Sampedro Eladio A, Wangensteen Teresia, Wappenschmidt Barbara, Yannoukakos Drakoulis, Yoon Sook-Yee, Spurdle Amanda B, Radice Paolo

Аннотация

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.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты