Multigene panel testing versus syndrome-specific germline testing for inherited cancer risk: ‘a somewhat different way’

2019 ◽  
Vol 16 (2) ◽  
pp. 83-86
Author(s):  
Leah H Biller ◽  
Matthew B Yurgelun
Keyword(s):  
Cancer Risk ◽  
Inherited Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Germline Testing ◽  
Multigene Panel

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

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 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

Multigene Panel Testing and Breast Cancer Risk

JAMA Oncology ◽  
2017 ◽  
Vol 3 (9) ◽  
pp. 1176 ◽  
Author(s):  
Elias I. Obeid ◽  
Michael J. Hall ◽  
Mary B. Daly
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

Application of Multigene Panel Testing In Patients With High Risk for Hereditary Colorectal Cancer

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Ji Soo Park ◽  
Jung Won Park ◽  
Saeam Shin ◽  
Seung-Tae Lee ◽  
Sang Joon Shin ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
High Risk ◽  
Hereditary Colorectal 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

Informing models of cancer genetic care in the era of multigene panel testing with patient‐led recommendations

2020 ◽  
Author(s):  
Meghan Underhill‐Blazey ◽  
Traci Blonquist ◽  
Anu Chittenden ◽  
Rachel Pozzar ◽  
Manan Nayak ◽  
...  
Keyword(s):  
Cancer Genetic ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Multigene Panel Testing Provides a New Perspective on Lynch Syndrome

2017 ◽  
Vol 35 (22) ◽  
pp. 2568-2575 ◽  
Author(s):  
Carin R. Espenschied ◽  
Holly LaDuca ◽  
Shuwei Li ◽  
Rachel McFarland ◽  
Chia-Ling Gau ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Population Based ◽  
Brca1 And Brca2 ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
New Perspective ◽  
Testing Criteria ◽  
Multigene Panel

Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. Most of these studies were performed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial cancer cohorts, possibly biasing results. We aimed to describe a large cohort of mismatch repair (MMR) mutation carriers ascertained through multigene panel testing, evaluate their phenotype, and compare the results with those of previous studies. Methods We retrospectively reviewed clinical histories of patients who had multigene panel testing, including the MMR and EPCAM genes, between March 2012 and June 2015 (N = 34,981) and performed a series of statistical comparisons. Results Overall, MSH6 mutations were most frequent, followed by PMS2, MSH2, MLH1, and EPCAM mutations, respectively. Of 528 patients who had MMR mutations, 63 (11.9%) had breast cancer only and 144 (27.3%) had CRC only. When comparing those with breast cancer only to those with CRC only, MSH6 and PMS2 mutations were more frequent than MLH1 and MSH2 mutations ( P = 2.3 × 10−5). Of the 528 patients, 22.2% met BRCA1 and BRCA2 ( BRCA1/2) testing criteria and not LS criteria, and 5.1% met neither BRCA1/2 nor LS testing criteria. MSH6 and PMS2 mutations were more frequent than MLH1 and MSH2 mutations among patients who met BRCA1/2 testing criteria but did not meet LS testing criteria ( P = 4.3 × 10−7). Conclusion These results provide a new perspective on LS and suggest that individuals with MSH6 and PMS2 mutations may present with a hereditary breast and ovarian cancer phenotype. These data also highlight the limitations of current testing criteria in identifying these patients, as well as the need for further investigation of cancer risks in patients with MMR mutations.

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