4.2 Review

First international workshop of the ATM and cancer risk group (4-5 December 2019)

期刊

FAMILIAL CANCER
卷 21, 期 2, 页码 211-227

出版社

SPRINGER
DOI: 10.1007/s10689-021-00248-y

关键词

ATM; Cancer risk; Cancer spectrum; Variants classification; Tumor profiles

资金

  1. AT EUROPE
  2. Association Pour la Recherche sur l'Ataxie-Telangiectasie (APRAT)
  3. GENETICANCER
  4. Association pour la Recherche sur le Cancer (ARC)
  5. ROCHE
  6. DNA GenoTek
  7. Agilent
  8. Institut Curie
  9. National Breast Cancer Foundation (Australia) [ECF-17-001]
  10. National Health and Medical Research Council (NMHRC, Australia) [APP1155163]
  11. Intramural Research Program of the National Institutes of Health, National Cancer Institute, Division of Cancer Epidemiology and Genetics
  12. Norwegian Cancer Society [194751-2017]
  13. NIHR
  14. Royal Marsden NHS Foundation Trust, London, UK
  15. LILT
  16. Lega Italiana per la Lotta Contro I Tumori
  17. Carlos III National Institute of Health - FEDER funds - a way to build Europe [PI19/00553, PI16/00563, PI16/01898, SAF2015-68016-R]
  18. Government of Catalonia [Pla estrategic de recerca i innovacio en salut (PERIS_MedPerCan project)]
  19. Government of Catalonia [Pla estrategic de recerca i innovacio en salut (URDCat project)] [2017SGR1282, 2017SGR496]

向作者/读者索取更多资源

The first International Workshop of the ATM and Cancer Risk group focused on the role of ATM gene in cancer, emphasizing the lack of consensus on management guidelines for ATM variant carriers. The meeting aimed to review current knowledge and challenges related to ATM and cancer risk, highlighting the importance of accurate variant classification and the need for large-scale international studies to benefit ATM variant carriers outside the context of Ataxia-Telangiectasia.
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.

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