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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
L. Stolarova, P. Kleiblova, P. Zemankova, B. Stastna, M. Janatova, J. Soukupova, MI. Achatz, C. Ambrosone, P. Apostolou, BK. Arun, P. Auer, M. Barnard, B. Bertelsen, Biobank Japan, MJ. Blok, N. Boddicker, J. Brunet, ES. Burnside, M. Calvello, I....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu metaanalýza, časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
P50 CA116201
NCI NIH HHS - United States
R01 CA192393
NCI NIH HHS - United States
R35 CA253187
NCI NIH HHS - United States
NLK
Free Medical Journals
od 1995 do Před 1 rokem
Freely Accessible Science Journals
od 1995
Open Access Digital Library
od 1995-01-01
Open Access Digital Library
od 1995-01-01
- MeSH
- checkpoint kinasa 2 genetika MeSH
- genetická predispozice k nemoci MeSH
- lidé MeSH
- missense mutace MeSH
- nádory prsu * epidemiologie genetika MeSH
- zárodečné buňky MeSH
- zárodečné mutace MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
PURPOSE: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). EXPERIMENTAL DESIGN: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1-CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case-control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. RESULTS: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N = 102), functionally intermediate (N = 12), or functionally wild-type (WT)-like (N = 226). We then examined their association with breast cancer risk in the case-control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35-3.41), 1.57 (95% CI, 1.41-1.75), and 1.19 (95% CI, 1.08-1.31), respectively. The meta-analysis of population-specific datasets showed similar results. CONCLUSIONS: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with no clinically relevant breast cancer risk in heterozygous carriers.
A C Camargo Cancer Center and Oncology Center Hospital Sirio Libanes Sao Paulo Brazil
Ambry Genetics Aliso Viejo California
American Cancer Society Atlanta Georgia
Beckman Research Institute City of Hope Cancer Center Duarte California
Behavioral and Epidemiology Research Group American Cancer Society Atlanta Georgia
Biosciences Laboratory IRCCS Istituto Romagnolo per lo Studio dei Tumori Dino Amadori Meldola Italy
Biostatistics Unit The Cyprus Institute of Neurology and Genetics Nicosia Cyprus
Cancer Genetics Service National Cancer Centre Singapore Singapore
Cancer Genomics Laboratory Peter MacCallum Cancer Centre Melbourne Australia
Center for Genomic Medicine Copenhagen University Hospital Copenhagen Denmark
Center for Medical Genetics Ghent University and Ghent University Hospital Ghent Belgium
Center for Medical Genetics NorthShore University Health System Evanston Illinois
Center for Omics Sciences IRCCS San Raffaele Scientific Institute Milan Italy
Centro de Investigación Biomédica en Red de Cáncer Madrid Spain
Centro de Investigación en Red de Enfermedades Raras Santiago de Compostela Spain
Clinical Cancer Genetics and Family Consultants CLINICAGENE Athens Medical Center Athens Greece
Department of Breast Medical Oncology University of Texas MD Anderson Cancer Center Houston Texas
Department of Cancer Prevention and Control Roswell Park Cancer Center Buffalo New York
Department of Clinical and Experimental Sciences University of Brescia Brescia Italy
Department of Clinical and Molecular Medicine Sapienza University of Rome Rome Italy
Department of Clinical Genetics Copenhagen University Hospital Copenhagen Denmark
Department of Clinical Genetics Maastricht University Medical Centre Maastricht the Netherlands
Department of Epidemiology University of Washington Seattle Washington
Department of Experimental Medicine Sapienza University of Rome Rome Italy
Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota
Department of Medical Oncology Mayo Clinic Rochester Minnesota
Department of Medical Sciences University of Turin Turin Italy
Department of Obstetrics and Gynecology Ulm University Ulm Germany
Department of Oncology and Haematology Modena University Hospital Modena Italy
Department of Oncology Mayo Clinic Rochester Minnesota
Department of Pathophysiology 1st Faculty of Medicine Charles University Prague Czech Republic
Department of Population Science American Cancer Society Atlanta Georgia
Department of Population Sciences Beckman Research Institute of City of Hope Duarte California
Department of Quantitative Health Sciences Mayo Clinic Rochester Minnesota
Department Quantitative Sciences Mayo Clinic Rochester Minnesota
Division of Cancer Prevention and Genetics IEO European Institute of Oncology IRCCS Milan Italy
Duke NUS Medical School Singapore Singapore
Endocrine and Metabolic Disease Unit ASST Spedali Civili of Brescia Brescia Italia
Fundacion Publica Galega de Medicina Xenomica Santiago de Compostela Spain
Immunology and Molecular Oncology Unit Veneto Institute of Oncology Padua Italy
Institute for Medical Informatics Statistics and Epidemiology University of Leipzig Leipzig Germany
Institute of Human Genetics University Medical Center Hamburg Eppendorf Hamburg Germany
Institute of Medical Science The University of Tokyo Tokyo Japan
Instituto de Investigación Sanitaria de Santiago de Compostela Santiago de Compostela Spain
Keck School of Medicine University of Southern California Los Angeles California
Laboratory for Genotyping Development RIKEN Center for Integrative Medical Sciences Yokohama Japan
Lee Kong Chian School of Medicine Nanyang Technological University Singapore Singapore
Lifepool Peter MacCallum Cancer Centre Melbourne Australia
Mayo Clinic Rochester Minnesota
Medical genetics University of Siena Siena Italy
Population Health Program QIMR Berghofer Medical Research Institute Brisbane Australia
Roswell Park Comprehensive Cancer Center Buffalo New York
School of Medicine and Public Health University of Wisconsin Madison Wisconsin
Sir Peter MacCallum Department of Oncology University of Melbourne Melbourne Australia
Slone Epidemiology Center Boston University Boston Massachusetts
T H Chan School of Public Health Harvard University Cambridge Massachusetts
Citace poskytuje Crossref.org
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