Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CH EK 2 *1100delC Carriers
Open accessAbstract
Purpose: CHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2*1100delC. Patients and Methods: CHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2*1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population- and hospital-based studies. Results: Proportions of heterozygous CHEK2*1100delC carriers in controls, in patients with breast cancer from population- and hospital-based studies, and in patients with breast cancer from familial- and clinical genetics center–based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 × 10 −20 ). The OR was higher for estrogen receptor (ER)–positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 × 10 −21 ]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 × 10 −4 ). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2*1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom. Conclusion: These CHEK2*1100delC breast cancer risk estimates provide a basis for incorporating CHEK2*1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up.
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Four cases in the complex rearrangement subgroup had germline pathogenic variants in ATM, CHEK2, or TP53, all with somatic LOH.
“Four cases within this group harboured germline pathogenic variants in ATM [23], CHEK2 [24] or TP53 [25], all with somatic LOH.”
From Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers (2019) · cites this paper as [24]
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Update Breast Cancer 2021 Part 4 – Prevention and Early Stages
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Self-citation
- Authors
- Schmidt, M. K., Hogervorst, F., van Hien, R., Cornelissen, S., Broeks, A., Adank, M. A., Meijers, H., Waisfisz, Q., Hollestelle, A., Schutte, M., van den Ouweland, A., Hooning, M., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Antoniou, A. C., Arndt, V., Bermisheva, M., Bogdanova, N. V., Bolla, M. K., Brauch, H., Brenner, H., Brüning, T., Burwinkel, B., Chang-Claude, J., Chenevix-Trench, G., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Dunning, A. M., Fasching, P. A., Figueroa, J., Fletcher, O., Flyger, H., Galle, E., García-Closas, M., Giles, G. G., Haeberle, L., Hall, P., Hillemanns, P., Hopper, J. L., Jakubowska, A., John, E. M., Jones, M., Khusnutdinova, E., Knight, J. A., Kosma, V.-M., Kristensen, V., Lee, A., Lindblom, A., Lubinski, J., Mannermaa, A., Margolin, S., Meindl, A., Milne, R. L., Muranen, T. A., Newcomb, P. A., Offit, K., Park-Simon, T.-W., Peto, J., Pharoah, P. D. P., Robson, M., Rudolph, A., Sawyer, E. J., Schmutzler, R. K., Seynaeve, C., Soens, J., Southey, M. C., Spurdle, A. B., Surowy, H., Swerdlow, A., Tollenaar, R. A. E. M., Tomlinson, I., Trentham-Dietz, A., Vachon, C., Wang, Q., Whittemore, A. S., Ziogas, A., van der Kolk, L., Nevanlinna, H., Dörk, T., Bojesen, S., & Easton, D. F.
- Affiliations
- F. Hoffmann-La Roche AG (CH)
- Marjanka K. Schmidt, Frans Hogervorst, Richard van Hien, Sten Cornelissen, Annegien Broeks, and Lizet van der Kolk, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital; Muriel A. Adank, Hanne Meijers, and Quinten Waisfisz, VU University Medical Center, Amsterdam; Antoinette Hollestelle, Mieke Schutte, Maartje Hooning, and Caroline Seynaeve, Erasmus MC Cancer Institute; Ans van den Ouweland, Erasmus University Medical Center, Rotterdam; Rob A.E.M. Tollenaar, Leiden University Medical Center,...
- Corresponding author
- Schmidt, Marjanka K.
- ORCID
- Schmidt, Marjanka K.
- Cornelissen, Sten
- Broeks, Annegien
- Adank, Muriel A.
- Waisfisz, Quinten
- Hollestelle, Antoinette
- Hooning, Maartje
- Andrulis, Irene L.
- Antoniou, Antonis C.
- Arndt, Volker
- Bermisheva, Marina
- Bogdanova, Natalia V.
- Bolla, Manjeet K.
- Brauch, Hiltrud
- Brenner, Hermann
- Brüning, Thomas
- Burwinkel, Barbara
- Chang-Claude, Jenny
- Couch, Fergus J.
- Cox, Angela
- Cross, Simon S.
- Czene, Kamila
- Dunning, Alison M.
- Fasching, Peter A.
- Figueroa, Jonine
- Fletcher, Olivia
- Galle, Eva
- Giles, Graham G.
- Hall, Per
- Hillemanns, Peter
- Hopper, John L.
- Jakubowska, Anna
- John, Esther M.
- Knight, Julia A.
- Kosma, Veli-Matti
- Kristensen, Vessela
- Lindblom, Annika
- Margolin, Sara
- Milne, Roger L.
- Muranen, Taru A.
- Newcomb, Polly A.
- Pharoah, Paul D.P.
- Robson, Mark
- Rudolph, Anja
- Sawyer, Elinor J.
- Southey, Melissa C.
- Spurdle, Amanda B.
- Surowy, Harald
- Swerdlow, Anthony
- Tollenaar, Rob A.E.M.
- Tomlinson, Ian
- Vachon, Celine
- Wang, Qin
- Whittemore, Alice S.
- Ziogas, Argyrios
- Nevanlinna, Heli
- Dörk, Thilo
- Bojesen, Stig
- Easton, Douglas F.
- Venue
- Journal of Clinical Oncology
- Published
- 2016-08-10
- Volume
- 34
- Issue
- 23
- Pages
- 2750-2760
- ISSN
- 0732-183X (ISSN-L)
- 1527-7755
- PMC
- PMC5019754
- OpenAlex
- W2400927555
- Cited by
- 173
- References
- 27
- Citations by year
- 2026: 5 · 2025: 1 · 2024: 16 · 2023: 17 · 2022: 30 · 2021: 19 · 2020: 19 · 2019: 27 · 2018: 22 · 2017: 14 · 2016: 3
- FWCI
- 17.59
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Clinical Oncology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Kölner Universitäts PublikationsServer (Universität zu Köln) (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- LSHTM Research Online (London School of Hygiene and Tropical Medicine) (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Apollo (University of Cambridge) (submittedVersion)
- Apollo
- Funders
- U.S. Department of Health and Human Services
- Susan G. Komen for the Cure (CA116201, 39346, DDHK 2009-4318, 70492, 193387/V50, C1287/A10118, 01KW9976/8, DDHK 2004-3124, HEALTH-F2-2009-223175, CA92044, LVS39420, 01KW9975/5, 2007-3839, CA58860, 01KW9977/0, 2009 4363, 193387/H10, BBMRI-NL CP16, RUS08/017, 209057, 110837, 01KW0114, RUL 1997-1505, PBZ_KBN_122/P05/2004, UM1 CA164920, C490/A10124)
- Mayo Clinic (CA116201)
- Breast Cancer Research Foundation (UM1 CA164920, C490/A10124, 2007-3839, 39346, 01KW0114, 70492, 01KW9977/0, DDHK 2009-4318, C1287/A10118, CA116201, 01KW9976/8, RUL 1997-1505, CA92044, 209057, 110837, RUS08/017, BBMRI-NL CP16, CA58860, 2009 4363, LVS39420, 01KW9975/5, 193387/V50, 193387/H10, PBZ_KBN_122/P05/2004, HEALTH-F2-2009-223175, DDHK 2004-3124)
- Memorial Sloan-Kettering Cancer Center
- Itä-Suomen Yliopisto (RUL 1997-1505, 110837, DDHK 2009-4318, CA92044, LVS39420, 70492, 2007-3839, 193387/V50, C1287/A10118, PBZ_KBN_122/P05/2004, RUS08/017, C490/A10124, 193387/H10, 01KW9977/0, CA116201, 39346, 209057, 2009 4363, UM1 CA164920, HEALTH-F2-2009-223175, BBMRI-NL CP16, 01KW9976/8, 01KW9975/5, CA58860, DDHK 2004-3124, 01KW0114)
- Helsingin Yliopisto
- Helsingin ja Uudenmaan Sairaanhoitopiiri
- Sundhed og Sygdom, Det Frie Forskningsråd (C1287/A10118, DDHK 2009-4318, 39346, PBZ_KBN_122/P05/2004, CA116201, HEALTH-F2-2009-223175, 01KW9977/0, CA92044, UM1 CA164920, 01KW9975/5, LVS39420, CA58860, RUS08/017, 70492, C490/A10124, 01KW0114, 2007-3839, 193387/H10, 01KW9976/8, 209057, 2009 4363, BBMRI-NL CP16, 193387/V50, DDHK 2004-3124, 110837, RUL 1997-1505)
- Deutsches Krebsforschungszentrum (PBZ_KBN_122/P05/2004, 110837, 01KW9976/8, DDHK 2004-3124, UM1 CA164920, 01KW9977/0, 01KW0114, RUS08/017, 193387/H10, C490/A10124, 2009 4363, 70492, 193387/V50, C1287/A10118, CA116201, 2007-3839, CA92044, HEALTH-F2-2009-223175, LVS39420, BBMRI-NL CP16, CA58860, 209057, DDHK 2009-4318, 01KW9975/5, RUL 1997-1505, 39346)
- Kreftforeningen (BBMRI-NL CP16, PBZ_KBN_122/P05/2004, UM1 CA164920, RUL 1997-1505, 70492, DDHK 2009-4318, HEALTH-F2-2009-223175, 2009 4363, 2007-3839, C1287/A10118, 193387/V50, DDHK 2004-3124, 39346, CA58860, 01KW9975/5, 209057, RUS08/017, 193387/H10, C490/A10124, 01KW0114, 110837, 01KW9976/8, LVS39420, CA116201, CA92044, 01KW9977/0)
- London School of Hygiene and Tropical Medicine
- David F. and Margaret T. Grohne Family Foundation (01KW9977/0, CA92044, 01KW9975/5, 2009 4363, PBZ_KBN_122/P05/2004, UM1 CA164920, BBMRI-NL CP16, CA58860, C1287/A10118, 70492, CA116201, DDHK 2009-4318, C490/A10124, 110837, DDHK 2004-3124, 209057, HEALTH-F2-2009-223175, 2007-3839, 193387/V50, RUL 1997-1505, 193387/H10, 01KW0114, 39346, 01KW9976/8, RUS08/017, LVS39420)
- Wellcome Trust (090532, 090532/Z/09/Z)
- Francis Crick Institute (10124, 10119)
- QIMR Berghofer Medical Research Institute
- Lon V. Smith Foundation (01KW0114, LVS39420, 70492, RUS08/017, 01KW9975/5, DDHK 2009-4318, C490/A10124, 209057, CA116201, PBZ_KBN_122/P05/2004, UM1 CA164920, 2007-3839, 01KW9976/8, 01KW9977/0, C1287/A10118, BBMRI-NL CP16, 110837, CA92044, HEALTH-F2-2009-223175, CA58860, RUL 1997-1505, DDHK 2004-3124, 2009 4363, 39346, 193387/H10, 193387/V50)
- Cancer Research UK (LVS39420, 223175, 11174, 70492, 10119, 01KW9977/0, C1287/A10118, C1287/A12014, RUS08/017, C1287‐A10118, 12014, HEALTHF2-2009-223175, 16561, 01KW9975/5, 16565, RUL 1997-1505, 209057, C1287/ A12014, 110837, C1287, CA92044, PBZ_KBN_122/P05/2004, 20861, 2007-3839, 01KW9976/8, 193387/V50, 10118, CA116201, 10124, 2009 4363, DDHK 2004-3124, C490/A10124, UM1 CA164920, 39346, 01KW0114, CA58860, 193387/H10, BBMRI-NL CP16, DDHK 2009-4318)
- National Institute for Health and Care Research (110837, 39346, RUS08/017, 193387/V50, 01KW9976/8, HEALTH-F2-2009-223175, 03/DHCS/03/G121/51, DDHK 2009-4318, PBZ_KBN_122/P05/2004, 209057, CA116201, CA92044, C1287/A10118, 01KW9975/5, BBMRI-NL CP16, 01KW9977/0, RUL 1997-1505, 70492, UM1 CA164920, LVS39420, DDHK 2004-3124, 2009 4363, 01KW0114, CA58860, 2007-3839, C490/A10124, 193387/H10)
- King's College London
- University of Oxford
- National Breast Cancer Foundation (01KW9975/5, LVS39420, 2009 4363, HEALTH-F2-2009-223175, BBMRI-NL CP16, 39346, CA116201, RUS08/017, 193387/H10, 110837, CA58860, DDHK 2009-4318, DDHK 2004-3124, 2007-3839, 01KW9977/0, 193387/V50, 01KW9976/8, C490/A10124, RUL 1997-1505, 70492, CA92044, 01KW0114, 209057, UM1 CA164920, C1287/A10118, PBZ_KBN_122/P05/2004)
- Agency for Science, Technology and Research
- Robert Bosch Stiftung (01KW9976/8, 193387/H10, 01KW0114, DDHK 2009-4318, DDHK 2004-3124, C1287/A10118, UM1 CA164920, 70492, BBMRI-NL CP16, RUS08/017, CA116201, CA92044, HEALTH-F2-2009-223175, 01KW9977/0, 01KW9975/5, 193387/V50, 2009 4363, C490/A10124, 39346, PBZ_KBN_122/P05/2004, 110837, RUL 1997-1505, CA58860, 2007-3839, 209057, LVS39420)
- Universität Heidelberg
- Universiteit Leiden
- University of Melbourne
- Universiteit van Amsterdam
- Vrije Universiteit Amsterdam
- Eberhard Karls Universität Tübingen
- Bundesministerium für Bildung und Forschung (193387/V50, 2007-3839, 70492, BBMRI-NL CP16, 01KW9977/0, 39346, 01KW9975/5, 01KW9976/8, 2009 4363, C1287/A10118, C490/A10124, HEALTH-F2-2009-223175, 01KW0114, PBZ_KBN_122/P05/2004, RUS08/017, 110837, CA92044, CA58860, DDHK 2009-4318, CA116201, UM1 CA164920, 193387/H10, RUL 1997-1505, 209057, LVS39420, DDHK 2004-3124)
- Cancerfonden
- Gentofte Hospital
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (184021007, NWO 184.021.007)
- Deutsche Gesetzliche Unfallversicherung
- Herlev Hospital
- University of Toronto
- Karolinska Institutet (DDHK 2004-3124, 01KW9977/0, 39346, C1287/A10118, CA58860, HEALTH-F2-2009-223175, DDHK 2009-4318, LVS39420, CA116201, PBZ_KBN_122/P05/2004, RUL 1997-1505, RUS08/017, 2009 4363, C490/A10124, CA92044, 01KW9975/5, 01KW0114, 193387/H10, UM1 CA164920, BBMRI-NL CP16, 193387/V50, 110837, 70492, 01KW9976/8, 2007-3839, 209057)
- Kuopion Yliopistollinen Sairaala
- Stockholms Läns Landsting
- KWF Kankerbestrijding (193387/V50, NKI 2007–3839; 2009 4363, PBZ_KBN_122/P05/2004, DDHK 2004‐3124, 2007-3839, 2004-3124, LVS39420, RUS08/017, 01KW9976/8, UM1 CA164920, 70492, 1997-1505, HEALTH-F2-2009-223175, C490/A10124, 2009 4363, 01KW9977/0, CA116201, 193387/H10, NKI 2007–3839, DDHK 2009‐4318, CA58860, RUL1997-1505, CA92044, 01KW0114, 39346, 209057, 110837, C1287/A10118, 01KW9975/5, BBMRI-NL CP16)
- Leids Universitair Medisch Centrum
- Universitetet i Oslo (209057)
- Norges Forskningsråd (01KW0114, 209057, BBMRI-NL CP16, 193387/H10, 2007-3839, C1287/A10118, 01KW9975/5, 110837, 2009 4363, RUL 1997-1505, 01KW9976/8, CA58860, PBZ_KBN_122/P05/2004, DDHK 2004-3124, CA116201, UM1 CA164920, C490/A10124, LVS39420, 39346, 193387/V50, 01KW9977/0, RUS08/017, HEALTH-F2-2009-223175, CA92044, DDHK 2009-4318, 70492)
- Medizinischen Hochschule Hannover (01KW0114, 2007-3839, 39346, 2009 4363, DDHK 2004-3124, 209057, 193387/H10, C1287/A10118, 01KW9976/8, 01KW9975/5, 193387/V50, 110837, RUL 1997-1505, RUS08/017, C490/A10124, BBMRI-NL CP16, CA92044, CA58860, DDHK 2009-4318, CA116201, LVS39420, 70492, HEALTH-F2-2009-223175, PBZ_KBN_122/P05/2004, 01KW9977/0, UM1 CA164920)
- Technische Universität München
- Deutsche Krebshilfe (HEALTH-F2-2009-223175, 193387/H10, (#110837, 2007-3839, 01KW0114, DDHK 2004-3124, CA58860, RUL 1997-1505, UM1 CA164920, 01KW9976/8, C490/A10124, DDHK 2009-4318, CA92044, 209057, PBZ_KBN_122/P05/2004, 01KW9977/0, BBMRI-NL CP16, 01KW9975/5, 39346, CA116201, 2009 4363, C1287/A10118, 70492, 193387/V50, LVS39420, RUS08/017)
- Universität zu Köln
- Pomorski Uniwersytet Medyczny W Szczecinie
- Universitätsklinikum Köln
- National Institutes of Health (LVS39420, CA11620 1, DDHK 2009-4318, 01KW0114, 01KW9977/0, 01KW9975/5, 223175, 39346, 184.021.007, 193387/V50, 2007-3839, RUL 1997-1505, 193387/H10, 110837, 70492, C490/A10124, PBZ_KBN_122/P05/2004, RUS08/017, 01KW9976/8, C1287/A10118, BBMRI-NL CP16, 209057, HEALTH-F2-2009-223175, 3u01ca164920-07s1, DDHK 2004-3124, 2009 4363, CA116167, CA164920, CA58860)
- School of Medicine, Stanford University
- U.S. Army (DAMD17-01-1-0729)
- University of California, Los Angeles
- University of California, Irvine
- Medical Research Council (110837, CA58860, 70492, CA116201, PBZ_KBN_122/P05/2004, RUL 1997-1505, DDHK 2004-3124, RUS08/017, MC_PC_14105, BBMRI-NL CP16, HEALTH-F2-2009-223175, UM1 CA164920, 01KW9975/5, 01KW9976/8, 193387/V50, 01KW0114, 193387/H10, 2009 4363, 2007-3839, C490/A10124, C1287/A10118, CA92044, 39346, 209057, LVS39420, 01KW9977/0, DDHK 2009-4318)
- National Health and Medical Research Council (251553, 199600, 400281, 209057, 400413, 400281, 400413, 504711)
- Cancer Council South Australia
- Cancer Council Victoria (DDHK 2004-3124, UM1 CA164920, 110837, C1287/A10118, CA92044, 39346, 209057, HEALTH-F2-2009-223175, 2007-3839, CA116201, 193387/V50, 01KW9976/8, 01KW0114, DDHK 2009-4318, C490/A10124, PBZ_KBN_122/P05/2004, CA58860, 2009 4363, RUS08/017, RUL 1997-1505, BBMRI-NL CP16, 01KW9977/0, 01KW9975/5, 70492, LVS39420, 193387/H10)
- Cancer Council NSW
- Cancer Council Tasmania
- Russian Academy of Sciences
- Erasmus Universitair Medisch Centrum Rotterdam
- Universitätsklinikum Hamburg-Eppendorf
- National Cancer Institute (01KW9976/8, RUS08/017, PBZ_KBN_122/P05/2004, U01CA058860, HEALTH-F2-2009-223175, CA116167, DDHK 2009-4318, R01CA058860, 01KW9975/5, R01CA116167, UM1CA164920, 193387/H10, R01CA069664, R01CA047305, RUL 1997-1505, CA-116201, 2009 4363, R01CA192393, 209057, CA164920, CA58860, 01KW9977/0, 2007-3839, 193387/V50, 39346, CA176785, 01KW0114, K07CA092044, CA192393, C1287/A10118, 110837, DAMD17-01-1-0729, U01CA116167, DDHK 2004-3124, BBMRI-NL-CP16, R01CA176785, C490/A10124, CA92044, R01CA047147, 70492, P30CA008748, P50CA116201, LVS39420)
- David Geffen School of Medicine, University of California, Los Angeles
- Medical Research and Materiel Command (DAMD17-01–1-0729)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- CHEK2 1100delC, germline mutation carriers, breast cancer risk, tumor subtypes, estrogen receptor-positive breast cancer, age-specific risk, cumulative risk, breast cancer risk prediction, Breast Cancer Association Consortium, hereditary breast cancer, odds ratio, heterozygous carriers
- MeSH terms
- Adult, Age Factors, Aged, Aged, 80 and over, Breast Neoplasms, Female, Heterozygote, Homozygote, Humans, Middle Aged, Receptors, Estrogen, Receptors, Progesterone, Odds Ratio, Case-Control Studies, Sequence Deletion, Risk Assessment, Genetic Predisposition to Disease, Checkpoint Kinase 2
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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