Multigene Panel Testing for Hereditary Cancer Risk

2016 ◽  
Vol 7 (4) ◽  
Author(s):  
Alyssa A. Grissom, MSN, APN, AGCNS, OCN ◽  
Patricia J. Friend, PhD, APN-CNS, AOCNS, AGN-BC
Keyword(s):  
Cancer Risk ◽  
Hereditary Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing

2017 ◽  
pp. 123-153
Author(s):  
Holly LaDuca ◽  
Shuwei Li ◽  
A. J. Stuenkel ◽  
Virginia Speare ◽  
Jill S. Dolinsky ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Cancer Susceptibility ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals CDH1 on Multigene Panel Testing: Look Before You Leap

2019 ◽  
Vol 112 (4) ◽  
pp. 330-334 ◽  
Author(s):  
Bryson W Katona ◽  
Dana Farengo Clark ◽  
Susan M Domchek
Keyword(s):  
Gastric Cancer ◽  
Risk Assessment ◽  
Cancer Risk ◽  
Clinical Decision Making ◽  
Cancer Risk Assessment ◽  
Diffuse Gastric Cancer ◽  
Cancer Syndrome ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

Abstract Multigene panel testing (MGPT) has become a critical component of cancer risk assessment in clinical practice. As technology and access improve and costs decrease, more individuals than ever are undergoing MGPT for genetic evaluation. One gene that deserves special consideration when included on MGPT is CDH1, which codes for the cell-cell adhesion protein E-cadherin. Pathogenic and likely pathogenic germline variants in CDH1 have been associated with hereditary diffuse gastric cancer syndrome, and in highly penetrant families, testing for these variants is critical for proper risk management. However, recent data demonstrated that gastric cancer penetrance in unselected CDH1 carriers may be lower than expected. Further complicating matters are the lack of effective screening strategies for gastric cancer and recommendation for risk-reducing total gastrectomy in CDH1 carriers. Therefore, the discovery of an unexpected pathogenic or likely pathogenic CDH1 variant on multigene panel testing, when testing for CDH1 would not normally be considered based on personal or family history alone, creates dilemmas for both patients and providers. In this commentary, we highlight the potential for unexpected CDH1 variants on MGPT, outline the uncertainties associated with these variants, and emphasize the importance of pretest counseling regarding the potential for an unexpected CDH1 variant. Although CDH1 testing is often important for clinical decision-making, individuals and providers need to be aware of the potential for an unexpected CDH1 variant when CDH1 is included on MGPT for cancer risk assessment.

scholarly journals Preferences for multigene panel testing for hereditary breast cancer risk among ethnically diverse BRCA-uninformative families

2017 ◽  
Vol 9 (1) ◽  
pp. 81-92 ◽  
Author(s):  
Belinda Vicuña ◽  
Harold D. Delaney ◽  
Kristina G. Flores ◽  
Lori Ballinger ◽  
Melanie Royce ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Hereditary Breast Cancer ◽  
Ethnically Diverse ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Multigene panel testing for breast cancer patients at high risk for hereditary cancer

2016 ◽  
Vol 27 ◽  
pp. vi465
Author(s):  
H.-C. Shin ◽  
T.-K. Yoo ◽  
E. Lee ◽  
H.-B. Kee ◽  
J. Han ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Hereditary Cancer ◽  
Breast Cancer Patients ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

Are we still adjusting to multigene panel testing? An NCI-designated cancer center's 2-year experience.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1585-1585
Author(s):  
Chethan Ramamurthy ◽  
Mark A. Hitrik ◽  
Lyudmila DeMora ◽  
Andrea Forman ◽  
Kim Rainey ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hereditary Cancer ◽  
Cancer Center ◽  
Genetic Tests ◽  
Detection Rates ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Disease Specific ◽  
Over Time ◽  
Multigene Panel

1585 Background: Genetic testing for hereditary cancer predisposition has rapidly changed over the past few years with the introduction of multigene panel testing. Multigene testing has evolved from disease-agnostic comprehensive (C) panels alone to include disease-specific but expanded (DSE) panels as well as guideline-based (GB) panels. We analyzed trends in utilization of genetic testing over a two-year period in one NCI-designated Cancer Center, hypothesizing that over time genetic testing usage would trend toward more disease-specific panels. Methods: We conducted a retrospective analysis of our program’s database for all germline genetic tests ordered from 9/1/2013 to 8/31/2015 (n = 619; 246 in year 1, and 373 in year 2). Tests were categorized into three groups based on specificity: GB (range: 2-12 genes tested), DSE (12-35 genes tested), and C (28-80 genes tested). The Chi-square test was used to analyze test types ordered in year 1 (9/1/2013-8/31/2014) and year 2 (9/1/2014 – 8/31/2015) and the proportions of resulting mutation types. Results: A total of 604 germline genetic tests met the inclusion criteria: 39 GB (20 year 1, 19 year 2), 171 DSE (43 year 1, 128 year 2), and 394 C (180 year 1, 214 year 2). Compared to year 1, a larger proportion of DSE tests (35% v. 18%, p < 0.001), and a smaller proportion of C tests (59% v. 74%, p < 0.001) and GB tests (5% vs. 8%, p = 0.146) were ordered. DSE panels revealed a pathogenic variant (PV) at a rate of 16% and a variant of unknown significance (VUS) at a rate of 24%. C tests revealed a PV and VUS at rates of 14% and 29%, respectively. GB tests revealed a PV and VUS at rates of 21% and 18%, respectively. No statistically significant differences in detection rates of mutation types (PV or VUS) were found between GB, DSE, or C tests. Conclusions: The rates of PV detection were not significantly different between test types, but the profile of tests ordered changed over time to favor DSE panels. Exploration of factors contributing to changing trends in genetic testing are warranted as counselors and clinicians adapt to the quickly expanding number of genes associated with hereditary cancer risks, many of them moderate-risk, and the evolving landscape of multigene panel testing.

scholarly journals Mutation prevalence tables for hereditary cancer derived from multigene panel testing

2020 ◽  
Vol 41 (8) ◽  
Author(s):  
Steven N. Hart ◽  
Eric C. Polley ◽  
Amal Yussuf ◽  
Siddhartha Yadav ◽  
David E. Goldgar ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Adoption of multigene panel testing for hereditary cancer "CancerNext" in Tohoku University Hospital

2019 ◽  
Vol 30 ◽  
pp. vi99
Author(s):  
Keigo Komine ◽  
Masanobu Takahashi ◽  
Sakura Hiraide ◽  
Hideharu Yamada ◽  
Mari Tsubata ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
University Hospital ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment

JAMA Oncology ◽  
2015 ◽  
Vol 1 (7) ◽  
pp. 943 ◽  
Author(s):  
Andrea Desmond ◽  
Allison W. Kurian ◽  
Michele Gabree ◽  
Meredith A. Mills ◽  
Michael J. Anderson ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Risk Assessment ◽  
Cancer Risk ◽  
Cancer Risk Assessment ◽  
Ovarian Cancer Risk ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel
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