Elizabeth S. Burnside
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View article: Supplementary Methods 1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Supplementary Methods 1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
Detail description of the functional categorization of analyzed CHEK2 missense variants.
View article: Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer
Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer Open
The breast cancer risk conferred by germline protein truncating variants (PTVs) in known and putative breast cancer genes has been extensively investigated. However, the effect of FANCM PTVs on breast cancer risk remains unclear. Our previ…
View article: A Novel Playbook for Pragmatic Trial Operations to Monitor and Evaluate Ambient Artificial Intelligence in Clinical Practice
A Novel Playbook for Pragmatic Trial Operations to Monitor and Evaluate Ambient Artificial Intelligence in Clinical Practice Open
We provide a publicly available framework and protocols to help safely implement ambient AI in health care. Innovations include an embedded pragmatic trial design, human factors engineering, compliance-driven feedback loops, and real-time …
View article: Association of gene variant type and location with breast cancer risk in the general population
Association of gene variant type and location with breast cancer risk in the general population Open
View article: Beyond deadlines and deliverables: Identifying barriers and facilitators to enhance the PROMICE of translational teams
Beyond deadlines and deliverables: Identifying barriers and facilitators to enhance the PROMICE of translational teams Open
Background/Objective: The Clinical and Translational Science Awards (CTSA) Program supports a national network of medical research institutions working to expedite the development of treatments and interventions. High-performing translatio…
View article: A Novel Playbook for Pragmatic Trial Operations to Monitor and Evaluate Ambient Artificial Intelligence in Clinical Practice
A Novel Playbook for Pragmatic Trial Operations to Monitor and Evaluate Ambient Artificial Intelligence in Clinical Practice Open
Background Ambient artificial intelligence (AI) offers the potential to reduce documentation burden and improve efficiency through clinical note generation. Widespread adoption, however, remains limited due to challenges in electronic heal…
View article: Supplementary Table S2 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
Supplementary Table S2 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk Open
Supplementary Table S2 shows breast cancer risk factors and relative risks in the iCARE-Lit breast cancer risk prediction model
View article: Supplementary Table S1 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
Supplementary Table S1 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk Open
Supplementary Table S1 shows number of cases and controls and distribution by participating studies, age groups, and family history of breast cancer (first-degree relatives) in CARRIERS consortium
View article: Data from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
Data from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk Open
Background:Breast cancer has been associated with monogenic, polygenic, and epidemiologic (clinical, reproductive, and lifestyle) risk factors, but studies evaluating the combined effects of these factors have been limited.Methods:We exten…
View article: Supplementary Table S4 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
Supplementary Table S4 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk Open
Supplementary Table S4 shows discrimination and fit of models with different combinations of risk factors with controls and all breast cancer cases
View article: Supplementary Table S3 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
Supplementary Table S3 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk Open
Supplementary Table S3 shows univariate associations with odds of any breast cancer and invasive breast cancer only
View article: Supplementary Figure S1 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
Supplementary Figure S1 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk Open
Supplementary Figure S1 shows predicted lifetime risks of breast cancer based on carrier status and PRS, without and with ERS
View article: Supplementary Figure S2 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
Supplementary Figure S2 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk Open
Supplementary Figure S2 shows predicted 5-year risks of breast cancer based on carrier status, PRS, and ERS
View article: Supplementary Table S5 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
Supplementary Table S5 from Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk Open
Supplementary Table S5 shows discrimination of models with different combinations of risk factors with controls and invasive breast cancer cases
View article: Outcomes and Cost-Effectiveness of an EHR-Embedded AI Screener for Identifying Hospitalized Adults at Risk for Opioid Use Disorder
Outcomes and Cost-Effectiveness of an EHR-Embedded AI Screener for Identifying Hospitalized Adults at Risk for Opioid Use Disorder Open
Hospitalized adults with opioid use disorder (OUD) are at high risk for adverse events and rehospitalizations. This pre-post quasi-experimental study evaluated whether an AI-driven OUD screener embedded in the electronic health record (EHR…
View article: Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population
Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population Open
Importance Pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2 , and PALB2 are associated with increased breast cancer risk. However, it is unknown whether breast cancer risk differs by PV type or location in carriers ascertained from th…
View article: Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk Open
Background: Breast cancer has been associated with monogenic, polygenic, and epidemiologic (clinical, reproductive, and lifestyle) risk factors, but studies evaluating the combined effects of these factors have been limited. Methods: We ex…
View article: Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities
Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities Open
View article: Optimizing external advisory committee meetings of Clinical and Translational Science Awards through focused pre-review
Optimizing external advisory committee meetings of Clinical and Translational Science Awards through focused pre-review Open
External advisory committees (EACs) are critical peer-review meetings that drive improvement at Clinical and Translational Science Award Program Hubs. Despite their ubiquity, evaluations of EAC optimization and effective implementation rem…
View article: Management of Women at High Risk for Breast Cancer
Management of Women at High Risk for Breast Cancer Open
Primary care clinicians can use these independent risk factors as cues to pursue a more formal calculation of a woman's lifetime risk for breast cancer and make appropriate referrals for enhanced screening and chemoprophylaxis counseling i…
View article: Figure 3 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 3 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
Kinase KAP1 and CHK2 assays (A). The bar graphs show results of kinase assays for 430 CHEK2 missense variants. In both assays, variants with normalized relative CHK2 activity (mean WT-activity = 1) exceeding that of the weake…
View article: Figure 6 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 6 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
Funnel plot (left) and forest plots (right) for individual datasets of breast cancer cases and controls from 12 datasets (10 countries) stratified according to the functional categorization.
View article: Table S1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Table S1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
List of all analyzed CHEK2 variants with results of KAP1/CHK2 kinase and localization assays and the results from recent previously published functional analyses of the CHEK2 VUS.
View article: Figure 5 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 5 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
Presence of analyzed CHEK2 missense variants categorized according to the functional assays in patients with breast cancer (BC pts; red numbers) and matched controls (dark green numbers). The association with breast cancer risk (odd…
View article: Data from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Data from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
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
View article: Table S2 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Table S2 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
Characteristics of 12 case-control datasets from the ENIGMA consortium partners.
View article: Figure 4 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 4 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
Results of KAP1 and CHK2 kinase assays for 430 successfully analyzed missense CHEK2 variants (shown as an average relative CHK2 kinase activity). Bars are colored as functionally WT-like (green), intermediate (IM; yellow), and impai…
View article: Figure 4 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 4 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
Results of KAP1 and CHK2 kinase assays for 430 successfully analyzed missense CHEK2 variants (shown as an average relative CHK2 kinase activity). Bars are colored as functionally WT-like (green), intermediate (IM; yellow), and impai…
View article: Supplementary Methods 1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Supplementary Methods 1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
Detail description of the functional categorization of analyzed CHEK2 missense variants.
View article: Figure 3 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Figure 3 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
Kinase KAP1 and CHK2 assays (A). The bar graphs show results of kinase assays for 430 CHEK2 missense variants. In both assays, variants with normalized relative CHK2 activity (mean WT-activity = 1) exceeding that of the weake…