Article
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.
Journal of medical genetics - 26 Aug 2026
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
Abstract excerpt
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...
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