First international workshop of the ATM and cancer risk group (4-5 December 2019).
СтатьяПоддержка исследования: вне правительства СШАОбзорНазвание и аннотация: Перевод в очереди
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Lesueur Fabienne, Easton Douglas F, Renault Anne-Laure, Tavtigian Sean V, Bernstein Jonine L, Kote-Jarai Zsofia, Eeles Rosalind A, Plaseska-Karanfia Dijana, Feliubadaló Lidia, Spanish ATM working group, Arun Banu, Herold Natalie, Versmold Beatrix, Schmutzler Rita Katharina, GC-HBOC, Nguyen-Dumont Tú, Southey Melissa C, Dorling Leila, Dunning Alison M, Ghiorzo Paola, Dalmasso Bruna Samia, Cavaciuti Eve, Le Gal Dorothée, Roberts Nicholas J, Dominguez-Valentin Mev, Rookus Matti, Taylor Alexander M R, Goldstein Alisa M, Goldgar David E, CARRIERS and Ambry Groups, Stoppa-Lyonnet Dominique, Andrieu Nadine
Аннотация
The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene in cancer was held on December 4 and 5, 2019 at Institut Curie in Paris, France. It was motivated by the fact that germline ATM pathogenic variants have been found to be associated with different cancer types. However, due to the lack of precise age-, sex-, and site-specific risk estimates, no consensus on management guidelines for variant carriers exists, and the clinical utility of ATM variant testing is uncertain. The meeting brought together epidemiologists, geneticists, biologists and clinicians to review current knowledge and on-going challenges related to ATM and cancer risk. This report summarizes the meeting sessions content that covered the latest results in family-based and population-based studies, the importance of accurate variant classification, the effect of radiation exposures for ATM variant carriers, and the characteristics of ATM-deficient tumors. The report concludes that ATM variant carriers outside of the context of Ataxia-Telangiectasia may benefit from effective cancer risk management and therapeutic strategies and that efforts to set up large-scale studies in the international framework to achieve this goal are necessary.