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Cited by 363

The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.

Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

Open access
Beitsch, Peter D., Whitworth, Pat W., Hughes, Kevin, Patel, Rakesh, Rosen, Barry, Compagnoni, Gia, Baron, Paul, Simmons, Rache, Smith, Linda Ann, Grady, Ian, Kinney, Michael, Coomer, Cynara, Barbosa, Karen, Holmes, Dennis R., Brown, Eric, Gold, Linsey, Clark, Patricia, Riley, Lee, Lyons, Samuel, Ruiz, Antonio, Kahn, Sadia, MacDonald, Heather, Curcio, Lisa, Hardwick, Mary Kay, Yang, Shan, Esplin, Ed D., Nussbaum, Robert L.·2019·Journal of Clinical Oncology
DOI 10.1200/jco.18.01631
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Abstract

Purpose: An estimated 10% of breast and ovarian cancers result from hereditary causes. Current testing guidelines for germ line susceptibility genes in patients with breast carcinoma were developed to identify carriers of BRCA1/ 2 variants and have evolved in the panel-testing era. We evaluated the capability of the National Comprehensive Cancer Network (NCCN) guidelines to identify patients with breast cancer with pathogenic variants in expanded panel testing. Methods: An institutional review board–approved multicenter prospective registry was initiated with 20 community and academic sites experienced in cancer genetic testing and counseling. Eligibility criteria included patients with a previously or newly diagnosed breast cancer who had not undergone either single- or multigene testing. Consecutive patients 18 to 90 years of age were consented and underwent an 80-gene panel test. Health Insurance Portability and Accountability Act–compliant electronic case report forms collected information on patient demographics, diagnoses, phenotypes, and test results. Results: More than 1,000 patients were enrolled, and data records for 959 patients were analyzed; 49.95% met NCCN criteria, and 50.05% did not. Overall, 8.65% of patients had a pathogenic/likely pathogenic (P/LP) variant. Of patients who met NCCN guidelines with test results, 9.39% had a P/LP variant. Of patients who did not meet guidelines, 7.9% had a P/LP variant. The difference in positive results between these groups was not statistically significant (Fisher’s exact test P = .4241). Conclusion: Our results indicate that nearly half of patients with breast cancer with a P/LP variant with clinically actionable and/or management guidelines in development are missed by current testing guidelines. We recommend that all patients with a diagnosis of breast cancer undergo expanded panel testing.

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Metadata

Authors
Beitsch, P. D., Whitworth, P. W., Hughes, K., Patel, R., Rosen, B., Compagnoni, G., Baron, P., Simmons, R., Smith, L. A., Grady, I., Kinney, M., Coomer, C., Barbosa, K., Holmes, D. R., Brown, E., Gold, L., Clark, P., Riley, L., Lyons, S., Ruiz, A., Kahn, S., MacDonald, H., Curcio, L., Hardwick, M. K., Yang, S., Esplin, E. D., & Nussbaum, R. L.
Venue
Journal of Clinical Oncology
Publisher
American Society of Clinical Oncology (ASCO)
Published
2019-02-20
Volume
37
Issue
6
Pages
453-460
ISSN
  • 0732-183X (ISSN-L)
  • 1527-7755
DOI
10.1200/jco.18.01631
OpenAlex
W2905048441
Cited by
363
References
28
FWCI
20.68
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle? https://app.cochat.ai/papers/10.1200/jco.18.01631
The paper
Beitsch, P. D., Whitworth, P. W., Hughes, K., Patel, R., Rosen, B., Compagnoni, G., Baron, P., Simmons, R., Smith, L. A., Grady, I., Kinney, M., Coomer, C., Barbosa, K., Holmes, D. R., Brown, E., Gold, L., Clark, P., Riley, L., Lyons, S., . . . Nussbaum, R. L. (2019). Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle? Journal of Clinical Oncology. https://doi.org/10.1200/jco.18.01631

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.