ArticleJNCI cancer spectrum2021
Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.
Open access · goldAbstract readMulticenter Study
In one paragraph
Article in JNCI cancer spectrum, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 4 pooled it
4.8field-weighted citation impact, top 4% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 4 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2025Guideline
- [Hereditary genetic testing and its application in the diagnosis, treatment, and prevention of breast cancer].Magyar onkologia · 2025Guideline
- Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2024Guideline
- Expression- and splicing-based multi-tissue transcriptome-wide association studies identified multiple genes for breast cancer by estrogen-receptor status.Breast cancer research : BCR · 2024Pooled it
- Hereditary breast cancer: emerging roles of non-coding RNAs.Hereditas · 2026Review
- Pathogenic variants in affected and unaffected individuals from Indonesian familial cancer: a multigene panel analysis.Scientific reports · 2025Article
- BRCA genetic testing utilization and expenditures among privately insured adults in the United States, 2013 to 2022.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Emotional distress and quality of life in high and moderate penetrance germline mutations carriers diagnosed with breast cancer: a preliminary study.Medicine and pharmacy reports · 2025Article
- Review
- Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.American journal of human genetics · 2024Article
- Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.Nature genetics · 2024Review
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germlinemedRxiv : the preprint server for health sciences · 2024Article
- Response to Penetrance estimates of hereditary cancers in a population setting using UK Biobank data.BJC reports · 2024Article
- Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Observational
- Cancer Risks Associated WithJCO precision oncology · 2024Article
- Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods.Pathology oncology research : POR · 2024Article
- A neural network computational structure for the fractional order breast cancer model.Scientific reports · 2023Article
- Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.American journal of human genetics · 2023Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 8 institutions in 1 country.
Xiao FanDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-8526-6945
Julia WynnDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Ning ShangDepartment of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA.
Cong LiuDepartment of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0001-6024-3037
Alexander FedotovIrving Institute for Clinical and Translational Research, Columbia University Irving Medical Center, New York, NY, USA.
Miranda L G HallquistGenomic Medicine Institute, Geisinger, Danville, PA, USA.ORCID 0000-0001-8554-2447
Adam H BuchananGenomic Medicine Institute, Geisinger, Danville, PA, USA.
Marc S WilliamsGenomic Medicine Institute, Geisinger, Danville, PA, USA.ORCID 0000-0001-6165-8701
Maureen E SmithDepartment of Medicine, Northwestern University, Chicago Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0001-9480-1092
Christin HoellCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0001-9477-4928
Laura J Rasmussen-TorvikDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0002-0820-7300
Josh F PetersonDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Georgia L WiesnerDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Andrea M MuradDivision of Genetic Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-0423-4966
Gail P JarvikDepartment of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, WA, USA.
Adam S GordonCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0002-2058-7289
Elisabeth A RosenthalDepartment of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, WA, USA.
Ian B StanawayDepartment of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, WA, USA.ORCID 0000-0002-0783-0918
David R CrosslinDepartment of Biomedical Informatics and Medical Education, University of Washington Medical Center, Seattle, WA, USA.
Eric B LarsonKaiser Permanente Washington Health Research Institute, Seattle, WA, USA.
Kathleen A LeppigKaiser Permanente Washington Health Research Institute, Seattle, WA, USA.
Nora B HenriksonKaiser Permanente Washington Health Research Institute, Seattle, WA, USA.ORCID 0000-0002-3459-7787
Janet L WilliamsGenomic Medicine Institute, Geisinger, Danville, PA, USA.ORCID 0000-0002-4604-3933
Rongling LiDivision of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA.
Scott HebbringCenter for Precision Medicine Research, Marshfield Clinic, Marshfield, WI, USA.
Chunhua WengDepartment of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-9624-0214
Yufeng ShenDepartment of Systems Biology, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-1299-5979
Katherine D CrewHerbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-9637-2962
Wendy K ChungDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0003-3438-5685
Columbia University Irving Medical Center · USNorthwestern University · USUniversity of Washington Medical Center · USKaiser Permanente Washington Health Research Institute · USVanderbilt University Medical Center · USMarshfield Clinic · USNational Institutes of Health · USUniversity of Michigan · US
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MNorthwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8MGenomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5MFinding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6MVariation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4MOMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3MDNA Sequencing Support for the eMERGE NetworkU01HG008664 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2015 to 2019
$10.9MGlobal Alliance for Genomic Health (GA4GH)U01HG008676 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LENNON, NIALL JOHN, REHM, HEIDI L · 2015 to 2019
$8.6MThe Electronic Medical Records and Genomics (eMERGE) Network Phase III Coordinating Center (U01)U01HG008701 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI PETERSON, JOSEPH F. · 2015 to 2019
$7.1MVGER, the Vanderbilt Genome-Electronic Records ProjectU01HG008672 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DENNY, JOSHUA C., RODEN, DAN M · 2015 to 2019
$5.1MThe Future of Genomics Medicine in Patient Care: Contributions from CHOPU01HG008684 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON · 2015 to 2019
$5.0MOMOP information model for eMERGE phenotypingU01HG008679 · NHGRI · GEISINGER CLINIC · PI WILLIAMS, MARC S. · 2015 to 2019
$4.4MNCATS NIH HHS UL1 TR001422NCATS NIH HHS UL1 TR001863NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008664NHGRI NIH HHS U01 HG008666NHGRI NIH HHS U01 HG008672NHGRI NIH HHS U01 HG008673NHGRI NIH HHS U01 HG008676NHGRI NIH HHS U01 HG008679NHGRI NIH HHS U01 HG008680NHGRI NIH HHS U01 HG008684NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG008701
Abstract
Background: Unbiased estimates of penetrance are challenging but critically important to make informed choices about strategies for risk management through increased surveillance and risk-reducing interventions. Methods: We studied the penetrance and clinical outcomes of 7 breast cancer susceptibility genes ( Results: Out of the 147 women, 32 women were diagnosed with breast cancer at an average age of 52.8 years. Estimated penetrance by age 60 years ranged from 17.8% to 43.8%, depending on the gene. In clinical-impact analysis, 42.3% (95% confidence interval = 31.3% to 53.3%) of women had taken actions related to their genetic results, and 2 new breast cancer cases were identified within the first 12 months after genetic results disclosure. Conclusions: Our study provides population-based penetrance estimates for the understudied genes
Indexed as
PenetranceAdultAtaxia Telangiectasia Mutated ProteinsBreast NeoplasmsCheckpoint Kinase 2Confidence IntervalsFanconi Anemia Complementation Group N ProteinFemaleGenes, BRCA1Genes, BRCA2Genes, p53Genetic Predisposition to DiseaseGenetic TestingHumansKaplan-Meier EstimateMiddle AgedAtaxia Telangiectasia Mutated ProteinsATM protein, humanCheckpoint Kinase 2CHEK2 protein, humanFanconi Anemia Complementation Group N ProteinPALB2 protein, humanPTEN PhosphohydrolasePTEN protein, human
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.