scholarly journals Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation

2021 ◽  
Vol 11 (7) ◽  
pp. 646
Author(s):  
Mary A. Majumder ◽  
Matthew L. Blank ◽  
Janis Geary ◽  
Juli M. Bollinger ◽  
Christi J. Guerrini ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Hereditary Cancer ◽  
Delphi Panel ◽  
Gene Variant ◽  
Cancer Gene ◽  
Privacy And Security ◽  
Data Resource ◽  
Policy Issues ◽  
Policy Delphi ◽  
Level Data

Understanding the clinical significance of variants associated with hereditary cancer risk requires access to a pooled data resource or network of resources—a “cancer gene variant commons”—incorporating representative, well-characterized genetic data, metadata, and, for some purposes, pathways to case-level data. Several initiatives have invested significant resources into collecting and sharing cancer gene variant data, but further progress hinges on identifying and addressing unresolved policy issues. This commentary provides insights from a modified policy Delphi process involving experts from a range of stakeholder groups involved in the data-sharing ecosystem. In particular, we describe policy issues and options generated by Delphi participants in five domains critical to the development of an effective cancer gene variant commons: incentives, financial sustainability, privacy and security, equity, and data quality. Our intention is to stimulate wider discussion and lay a foundation for further work evaluating policy options more in-depth and mapping them to those who have the power to bring about change. Addressing issues in these five domains will contribute to a cancer gene variant commons that supports better care for at-risk and affected patients, empowers patient communities, and advances research on hereditary cancers.

Hereditary Cancer Gene Variants in Hispanic Men with a Personal or Family History of Prostate Cancer

2022 ◽  
Author(s):  
Chethan Ramamurthy ◽  
Eric W. Stutz ◽  
Martin Goros ◽  
Jonathan Gelfond ◽  
Teresa L. Johnson-Pais ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
Hereditary Cancer ◽  
Gene Variants ◽  
Cancer Gene ◽  
Hispanic Men ◽  
History Of

scholarly journals Cancer Risk Assessment and Screening; A Challenge for Clinical Pathology Service?

2020 ◽  
Vol 27 (1) ◽  
Author(s):  
Siti Boedina Kresno
Keyword(s):  
Risk Factors ◽  
Cancer Risk ◽  
Hereditary Cancer ◽  
Cancer Susceptibility ◽  
Intrinsic Factor ◽  
Cancer Risk Assessment ◽  
Prophylactic Surgery ◽  
Cancer Etiology ◽  
Cancer Burden ◽  
Cancer Susceptibility Genes

There is evidence demonstrating that cancer etiology is multi-factorial and modification of risk factors has achievedcancer prevention. There is therefore a need to advance the understanding of cancer etiology through interaction effectsbetween risk factors when estimating the contribution of an individual to the cancer burden in a population. It has beenknown that cancer may arise from genetic susceptibility to the disease as an intrinsic factor; however, non-intrinsic factorsdrive most cancer risk as well and highlight the need for cancer prevention. Are our clinical pathologists aware of thesefacts?. Are they ready to understand and to provide an excellent test with good expertise?. Hereditary cancer testing istypically performed using gene panels, which may be either cancer-specific or pan-cancer to assess risk for a defined orbroader range of cancers, respectively. Given the clinical implications of hereditary cancer testing, diagnostic laboratoriesmust develop high-quality panel tests, which serve a broad, genetically diverse patient population. The result will determinea patient's eligibility for targeted therapy, for instance, or lead a patient to prophylactic surgery, chemoprevention, andsurveillance. This review will introduce the definitions of intrinsic and non-intrinsic risk factors, which have been employed inrecent work and how evidence for their effects on the cancer burden in human subjects has been obtained. Genetic testingof cancer susceptibility genes by use of liquid biopsies and New Generation Sequencing (NGS) is now widely applied inclinical practice to predict the risk of developing cancer, help diagnosis, and treatment monitoring.

Abstract P2-09-06: Multi-gene panel testing for hereditary cancer risk

2016 ◽  
Author(s):  
S Yadav ◽  
R Ladkany ◽  
J Fulbright ◽  
H Dreyfuss ◽  
A Reeves ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Hereditary Cancer ◽  
Gene Panel ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals The Dark Kinase Knowledgebase: an online compendium of knowledge and experimental results of understudied kinases

2020 ◽  
Vol 49 (D1) ◽  
pp. D529-D535 ◽  
Author(s):  
Matthew E Berginski ◽  
Nienke Moret ◽  
Changchang Liu ◽  
Dennis Goldfarb ◽  
Peter K Sorger ◽  
...  
Keyword(s):  
Protein Interactions ◽  
Expression Profiles ◽  
Gene Expression Profiles ◽  
Knowledge Generation ◽  
Data Resource ◽  
Functional Relationships ◽  
External Data ◽  
Level Data ◽  
Numerous Cell ◽  
Therapeutic Development

Abstract Kinases form the backbone of numerous cell signaling pathways, with their dysfunction similarly implicated in multiple pathologies. Further facilitated by their druggability, kinases are a major focus of therapeutic development efforts in diseases such as cancer, infectious disease and autoimmune disorders. While their importance is clear, the role or biological function of nearly one-third of kinases is largely unknown. Here, we describe a data resource, the Dark Kinase Knowledgebase (DKK; https://darkkinome.org), that is specifically focused on providing data and reagents for these understudied kinases to the broader research community. Supported through NIH’s Illuminating the Druggable Genome (IDG) Program, the DKK is focused on data and knowledge generation for 162 poorly studied or ‘dark’ kinases. Types of data provided through the DKK include parallel reaction monitoring (PRM) peptides for quantitative proteomics, protein interactions, NanoBRET reagents, and kinase-specific compounds. Higher-level data is similarly being generated and consolidated such as tissue gene expression profiles and, longer-term, functional relationships derived through perturbation studies. Associated web tools that help investigators interrogate both internal and external data are also provided through the site. As an evolving resource, the DKK seeks to continually support and enhance knowledge on these potentially high-impact druggable targets.

Hereditary cancer risk notification and testing: how interested is the general population?

1997 ◽  
Vol 15 (5) ◽  
pp. 2139-2148 ◽  
Author(s):  
M A Andrykowski ◽  
R Lightner ◽  
J L Studts ◽  
R K Munn
Keyword(s):  
Cancer Risk ◽  
Hereditary Cancer ◽  
Predictive Testing ◽  
Carrier Status ◽  
Clinical Settings ◽  
Hereditary Risk ◽  
Hereditary Syndromes ◽  
History Of ◽  
Risk Notification ◽  
Positive Carrier

PURPOSE Great interest in predictive testing for hereditary cancer syndromes has been reported. Prior research has focused on testing for specific hereditary syndromes and/or among individuals at high risk for positive carrier status. Given anticipated expansion of both the range of hereditary syndromes for which testing will be available, as well as the clinical settings in which testing will occur, assessment of interest in hereditary cancer risk testing and notification in the general public is warranted. METHODS As part of an annual statewide telephone survey, adults' (N = 654) interest in hereditary cancer risk testing and notification was assessed. RESULTS Interest in both risk testing (82%) and risk notification (87%) was high. Logistic regression analyses indicated that disinterest in risk notification was associated with female sex, performance of fewer health protective behaviors, and better perceptions of personal health. Disinterest in risk testing was associated with these same variables as well as older age, less concern over developing cancer, and a more extensive history of cancer in first degree relatives. CONCLUSION In the absence of risk-reducing behaviors with demonstrable efficacy, hereditary risk testing programs may have difficulty attracting the interest of those at greatest risk for carrier status. In contrast, many individuals at low risk for positive carrier status might seek testing, perhaps as a means of seeking reassurance regarding their low hereditary risk.

Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting

2018 ◽  
Vol 132 (5) ◽  
pp. 1121-1129 ◽  
Author(s):  
Mark S. DeFrancesco ◽  
Richard N. Waldman ◽  
Melissa M. Pearlstone ◽  
Dana Karanik ◽  
Ryan Bernhisel ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Cancer Risk ◽  
Hereditary Cancer ◽  
Cancer Risk Assessment ◽  
Practice Setting ◽  
Community Practice
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