TY - JOUR
T1 - First international workshop of the ATM and cancer risk group (4-5 December 2019)
AU - Spanish ATM working group
AU - GC-HBOC
AU - CARRIERS and Ambry Groups
AU - Lesueur, Fabienne
AU - Easton, Douglas F.
AU - Renault, Anne Laure
AU - Tavtigian, Sean V.
AU - Bernstein, Jonine L.
AU - Kote-Jarai, Zsofia
AU - Eeles, Rosalind A.
AU - Plaseska-Karanfia, Dijana
AU - Feliubadaló, Lidia
AU - Moles-Fernández, Alejandro
AU - Santamariña-Pena, Marta
AU - Sánchez, Alysson T.
AU - López-Novo, Anael
AU - Porras, Luz Marina
AU - Blanco, Ana
AU - Capellá, Gabriel
AU - de la Hoya, Miguel
AU - Molina, Ignacio J.
AU - Osorio, Ana
AU - Pineda, Marta
AU - Rueda, Daniel
AU - de la Cruz, Xavier
AU - Diez, Orland
AU - Ruiz-Ponte, Clara
AU - Gutiérrez-Enríquez, Sara
AU - Vega, Ana
AU - Lázaro, Conxi
AU - Arun, Banu
AU - Herold, Natalie
AU - Versmold, Beatrix
AU - Schmutzler, Rita Katharina
AU - Nguyen-Dumont, Tú
AU - Southey, Melissa C.
AU - Dorling, Leila
AU - Dunning, Alison M.
AU - Ghiorzo, Paola
AU - Dalmasso, Bruna Samia
AU - Cavaciuti, Eve
AU - Le Gal, Dorothée
AU - Roberts, Nicholas J.
AU - Dominguez-Valentin, Mev
AU - Rookus, Matti
AU - Taylor, Alexander M.R.
AU - Goldstein, Alisa M.
AU - Goldgar, David E.
AU - Couch, Fergus
AU - Kraft, Peter
AU - Weitzel, Jeffrey
AU - Nathanson, Kate
AU - Domchek, Susan
N1 - Publisher Copyright:
© 2021, The Author(s), under exclusive licence to Springer Nature B.V.
PY - 2022/4
Y1 - 2022/4
N2 - 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.
AB - 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.
KW - ATM
KW - Cancer risk
KW - Cancer spectrum
KW - Tumor profiles
KW - Variants classification
UR - http://www.scopus.com/inward/record.url?scp=85107970671&partnerID=8YFLogxK
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U2 - 10.1007/s10689-021-00248-y
DO - 10.1007/s10689-021-00248-y
M3 - Review article
C2 - 34125377
AN - SCOPUS:85107970671
SN - 1389-9600
VL - 21
SP - 211
EP - 227
JO - Familial Cancer
JF - Familial Cancer
IS - 2
ER -