First international workshop of the ATM and cancer risk group (4-5 December 2019).
ATM
Cancer risk
Cancer spectrum
Tumor profiles
Variants classification
Journal
Familial cancer
ISSN: 1573-7292
Titre abrégé: Fam Cancer
Pays: Netherlands
ID NLM: 100898211
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
received:
05
03
2021
accepted:
17
03
2021
pubmed:
15
6
2021
medline:
6
5
2022
entrez:
14
6
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34125377
doi: 10.1007/s10689-021-00248-y
pii: 10.1007/s10689-021-00248-y
pmc: PMC9969796
mid: NIHMS1870762
doi:
Substances chimiques
ATM protein, human
EC 2.7.11.1
Ataxia Telangiectasia Mutated Proteins
EC 2.7.11.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
211-227Subventions
Organisme : Intramural NIH HHS
ID : ZIA CP004410
Pays : United States
Investigateurs
Alejandro Moles-Fernández
(A)
Marta Santamariña-Pena
(M)
Alysson T Sánchez
(AT)
Anael López-Novo
(A)
Luz-Marina Porras
(LM)
Ana Blanco
(A)
Gabriel Capellá
(G)
Miguel de la Hoya
(M)
Ignacio J Molina
(IJ)
Ana Osorio
(A)
Marta Pineda
(M)
Daniel Rueda
(D)
Xavier de la Cruz
(X)
Orland Diez
(O)
Clara Ruiz-Ponte
(C)
Sara Gutiérrez-Enríquez
(S)
Ana Vega
(A)
Conxi Lázaro
(C)
Fergus Couch
(F)
Peter Kraft
(P)
Jeffrey Weitzel
(J)
Kate Nathanson
(K)
Susan Domchek
(S)
Holly LaDuca
(H)
Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Nature B.V.
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