Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Autor:	Pal T; Department of Medicine, Vanderbilt University Medical Center/Vanderbilt-Ingram Cancer Center, Nashville, TN., Schon KR; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, United Kingdom., Astiazaran-Symonds E; Department of Medicine, College of Medicine-Tucson, University of Arizona, Tucson, AZ., Balmaña J; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain; Medical Oncology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron Hospital Campus, Barcelona, Spain., Foulkes WD; Departments of Human Genetics, Oncology and Medicine, McGill University, Montréal, Québec, Canada., James P; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Klugman S; Division of Reproductive & Medical Genetics, Department of Obstetrics and Gynecology and Women's Health, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY., Livinski AA; National Institutes of Health Library, Office of Research Services, OD, NIH, Bethesda, MD., Mak JS; University of California San Francisco Helen Diller Family Comprehensive Cancer Center, San Francisco, CA., Ngeow J; Genomic Medicine, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore., Voian N; Providence Genetic Risk Clinic, Providence Cancer Institute, Portland, OR., Wick MJ; Departments of Obstetrics and Gynecology and Clinical Genomics, Mayo Clinic, Rochester, MN., Hanson H; Peninsula Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Faculty of Health and Life Sciences, University of Exeter Medical School, Exeter, United Kingdom., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD., Tischkowitz M; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, United Kingdom.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Dec 04, pp. 101243. Date of Electronic Publication: 2024 Dec 04.
DOI:	10.1016/j.gim.2024.101243
Abstrakt:	Purpose: ATM germline pathogenic variants (GPVs) are associated with a moderately increased risk of female breast cancer, pancreatic cancer, and prostate cancer. Resources for managing ATM heterozygotes in clinical practice are limited. Methods: An international workgroup developed a clinical practice resource to guide management of ATM heterozygotes using peer-reviewed publications and expert opinion. Results: Although ATM is a moderate (intermediate) penetrance gene, cancer risks may be considered as a continuous variable, influenced by family history and other modifiers. ATM GPV heterozygotes should generally be offered enhanced breast surveillance according to their personalized risk estimate and country-specific guidelines and, generally, risk-reducing mastectomy is not recommended. Prostate cancer surveillance should be considered. Pancreatic cancer surveillance should be considered based on assessment of family history, ideally as part of a clinical trial, with existence of country-specific guidelines. For ATM GPV heterozygotes who develop cancer, radiation therapy decisions should not be influenced by the genetic result. Although poly-adenosine diphosphate ribose polymerase inhibitors are licensed for use in metastatic castration-resistant prostate cancer and ATM GPVs, the evidence-base is currently weak. Conclusion: Systematic prospective data collection is needed to establish the spectrum of ATM-associated cancer and determine the outlines of surveillance, response to cancer treatment, and survival. Competing Interests: Conflict of Interest Funding and support listed here did not support development of this document unless included in the acknowledgments section. Tuya Pal is supported through extramural grant funding through the National Cancer Institute, the Komen Foundation, and the Breast Cancer Research Foundation. Joanne Ngeow is supported by research and education grants from AstraZeneca and receives research funding from Nalagenetics, Nanopore and Pacbio. Helen Hanson is supported by the Cancer Research CRUKCatalyst Award, CanGene-CanVar, the National Institute for Health and Care Research Exeter Biomedical Research Centre and has served on advisory boards for AstraZeneca. Douglas R. Stewart is supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics of the National Cancer Institute, Rockville, Maryland, and also performs contract clinical telehealth services for Genome Medical, Inc. in accordance with relevant National Cancer Institute ethics policies. Marc Tischkowitz is supported by the National Institute for Health and Care ResearchCambridge Biomedical Research Centre. All other authors declare no conflicts of interest. (Copyright © 2024 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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