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PMID: 42135054 已发表 · epublish 英语

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

Journal of medical genetics ·第 63 卷 ·第 9 期 ·2026-08-26

De Nicolo A, Eccles DM, Aaltonen K, Alhopuro P, Ariansen SL, Biancolella M, Caputo SM, Caron O, Cavalli P, Chiang J, Claes KBM, Cuaresma ECS, de la Hoya M, De Pauw A, Díez O, Domínguez-Valentin M, Ehrencrona H, Fjeldvær MK, Fostira F, Francia MBD, Galego-Carro J, Gómez García EB, Hassan NT, Hauke J, Hirasawa A, Huang X, Ilagan-Cargullo EMH, Imoto I, Jonnagadla S, Karthikeyan M, Kleiblova P, Konstantopoulou I, Kowalik A, Kvist A, Lesueur F, Li ST, López-Fernández A, Machackova E, Martins A, Mensenkamp AR, Momozawa Y, Montalban G, Monteiro ANA, Nevanlinna H, Ngeow J, Palmero EI, Pedersen IS, Que FVF, Santamariña M, Santana Dos Santos E, Singer CF, Siołek M, Solano AR, Soukupova J, Suresh PD, Szczepaniak M, Tan YY, Teo SH, Tham E, Thomassen M, Tsaousis G, Hansen TVO, Vega A, Velasco-Sampedro EA, Wangensteen T, Wappenschmidt B, Yannoukakos D, Yoon SY, Spurdle AB, Radice P

摘要

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.

关键词
Clinical Decision-Making Genetic Counseling Genetic Predisposition to Disease Genetic Variation Molecular Diagnostic Techniques
文献信息
期刊
Journal of medical genetics
期刊简称
J Med Genet
ISSN
1468-6244
发表日期
2026-08-26
语言
英语
国家/地区
England
NLM ID
2985087R
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