Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record

Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record

The clinical value of population-based genetic screening projects depends on the actions taken on the findings. The Healthy Nevada Project (HNP) is an all-comer genetic screening and research project based in northern Nevada. HNP participants with CDC Tier 1 findings of hereditary breast and ovarian...

Full description

Bibliographic Details
Main Authors:	Gai Elhanan, Daniel Kiser, Iva Neveux, Shaun Dabe, Alexandre Bolze, William J. Metcalf, James T. Lu, Joseph J. Grzymski
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2022-04-01
Series:	Frontiers in Genetics
Subjects:	CDC Tier 1 HBOC BRCA EHR Lynch familial hypercholesterolemia
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2022.866169/full

Similar Items

BRCA Testing in Serbia and Montenegro
by: Brankovic-Magic Mirjana
Published: (2006-10-01)

From the patient to the population: Use of genomics for population screening
by: Chloe Mighton, et al.
Published: (2022-10-01)

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome
by: Luise D. Resch, et al.
Published: (2021-09-01)

Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing
by: Clare Brookes, et al.
Published: (2015-05-01)

Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing
by: Clare Brookes, et al.
Published: (2015-05-01)

Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC
by: Zheyuan Xu, et al.
Published: (2021-02-01)

Pancreatic cancer as a sentinel for hereditary cancer predisposition
by: Erin L. Young, et al.
Published: (2018-06-01)

Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in <i>BRCA2</i>
by: Irene Hidalgo Mayoral, et al.
Published: (2023-02-01)

Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme
by: Anna Doraczynska-Kowalik, et al.
Published: (2022-09-01)

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples
by: Falk Zakrzewski, et al.
Published: (2019-04-01)

Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome
by: Pavlina Chrysafi, et al.
Published: (2023-12-01)

Age and Geographical Distribution in Families with <it>BRCA1/BRCA2 </it>Mutations in the Slovak Republic
by: Ciernikova Sona, et al.
Published: (2006-12-01)

Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes
by: Gabriella Doddato, et al.
Published: (2021-05-01)

Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes
by: Gabriella Doddato, et al.
Published: (2021-08-01)

A qualitative reflexive thematic analysis into the experiences of being identified with a BRCA1/2 gene alteration: “So many little, little traumas could have been avoided”
by: Nikolett Zsuzsanna Warner, et al.
Published: (2022-08-01)

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory
by: Sabrina A. Gardner, et al.
Published: (2018-01-01)

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide
by: Yosuke Hirotsu, et al.
Published: (2020-05-01)

Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay
by: Suzette Farber-Katz, et al.
Published: (2018-07-01)

Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
by: Jonas Langerud, et al.
Published: (2018-11-01)

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes
by: Stella Lai, et al.
Published: (2015-01-01)

Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA‐like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses
by: Yun Xu, et al.
Published: (2020-08-01)

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario
by: Andreza Amália de Freitas Ribeiro, et al.
Published: (2024-03-01)

Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in <i>BRCA1/2</i> and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing
by: Vida Stegel, et al.
Published: (2022-03-01)

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort
by: Ahmed Bouras, et al.
Published: (2023-06-01)

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area
by: Valentina Zampiga, et al.
Published: (2023-04-01)

Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant
by: Jun Li, et al.
Published: (2022-01-01)

Hereditary gynaecologic cancers in Nepal: a proposed model of care to serve high risk populations in developing countries
by: Hanoon P. Pokharel, et al.
Published: (2017-09-01)

Breast MRI texture analysis for prediction of BRCA-associated genetic risk
by: Georgia Vasileiou, et al.
Published: (2020-07-01)

Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model
by: Jacopo Azzollini, et al.
Published: (2022-04-01)

Effectiveness of decision aids for female BRCA1 and BRCA2 mutation carriers: a systematic review
by: Lisa Krassuski, et al.
Published: (2019-08-01)

Particulate matter and emergency visits for asthma: a time-series study of their association in the presence and absence of wildfire smoke in Reno, Nevada, 2013–2018
by: Daniel Kiser, et al.
Published: (2020-08-01)

Optical Genome Mapping Reveals the Landscape of Structural Variations and Their Clinical Significance in HBOC-Related Breast Cancer
by: Yanan Cheng, et al.
Published: (2024-01-01)

Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline
by: Michelle Jacobson, et al.
Published: (2021-09-01)

HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination
by: Alexandre Bolze, et al.
Published: (2022-04-01)

Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience
by: Sivia Barnoy, et al.
Published: (2023-05-01)

Pioneering BRCA1/2 Point-Of-Care Testing for Integration of Germline and Tumor Genetics in Breast Cancer Risk Management: A Vision for the Future of Translational Pharmacogenomics
by: Lwando Mampunye, et al.
Published: (2021-09-01)

Using phenome-wide association studies and the SF-12 quality of life metric to identify profound consequences of adverse childhood experiences on adult mental and physical health in a Northern Nevadan population
by: Karen A. Schlauch, et al.
Published: (2022-10-01)

Combining rare and common genetic variants improves population risk stratification for breast cancer
by: Alexandre Bolze, et al.
Published: (2024-01-01)

Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study
by: Felicia Adam, et al.
Published: (2023-01-01)

Molecular Features and Clinical Management of Hereditary Gynecological Cancers
by: Arisa Ueki, et al.
Published: (2020-12-01)