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.

首届ATM和癌症风险小组国际研讨会于 2019 年 12 月 4 日至 5 日在法国巴黎居里研究所举行，主题是共济失调-毛细血管扩张症突变( ATM ) 基因在癌症中的作用。它的动机是发现胚系ATM致病变异与不同的癌症类型有关。然而，由于缺乏精确的年龄、性别和特定地点的风险估计，对变异携带者的管理指南没有达成共识，ATM变异检测的临床效用也不确定。会议汇集了流行病学家、遗传学家、生物学家和临床医生，以审查与ATM相关的当前知识和持续挑战和癌症风险。本报告总结了会议内容，涵盖了基于家庭和基于人群的研究的最新结果、准确变异分类的重要性、辐射暴露对ATM变异携带者的影响，以及 ATM 缺陷肿瘤的特征。该报告得出结论，共济失调-毛细血管扩张症背景之外的ATM变异携带者可能受益于有效的癌症风险管理和治疗策略，并且有必要在国际框架内开展大规模研究以实现这一目标。