Official websites use. Share sensitive information only on official, secure websites. A list of the group members and their affiliations appears in the Notes section. 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.
Keywords: ATM , cancer risk, cancer spectrum, variants classification, tumor profiles. The rare and severe disease Ataxia-Telangiectasia A-T , which was first described in by the neurologist Denise Louis-Bar, is a complex phenotype that remains poorly understood.
