The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer
Open accessAbstract
Purpose: Genetic testing for breast cancer risk is evolving rapidly, with growing use of multiple-gene panels that can yield uncertain results. However, little is known about the context of such testing or its impact on treatment. Methods: A population-based sample of patients with breast cancer diagnosed in 2014 to 2015 and identified by two SEER registries (Georgia and Los Angeles) were surveyed about genetic testing experiences (N = 3,672; response rate, 68%). Responses were merged with SEER data. A patient subgroup at higher pretest risk of pathogenic mutation carriage was defined according to genetic testing guidelines. Patients’ attending surgeons were surveyed about genetic testing and results management. We examined patterns and correlates of genetic counseling and testing and the impact of results on bilateral mastectomy (BLM) use. Results: Six hundred sixty-six patients reported genetic testing. Although two thirds of patients were tested before surgical treatment, patients without private insurance more often experienced delays. Approximately half of patients (57% at higher pretest risk, 42% at average risk) discussed results with a genetic counselor. Patients with pathogenic mutations in BRCA1/2 or another gene had the highest rates of BLM (higher risk, 80%; average risk, 85%); however, BLM was also common among patients with genetic variants of uncertain significance (VUS; higher risk, 43%; average risk, 51%). Surgeons’ confidence in discussing testing increased with volume of patients with breast cancer, but many surgeons (higher volume, 24%; lower volume, 50%) managed patients with BRCA1/2 VUS the same as patients with BRCA1/2 pathogenic mutations. Conclusion: Many patients with breast cancer are tested without ever seeing a genetic counselor. Half of average-risk patients with VUS undergo BLM, suggesting a limited understanding of results that some surgeons share. These findings emphasize the need to address challenges in personalized communication about genetic testing.
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Internet, Mail, and Mixed-Mode Surveys: The Tailored Design Method
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Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
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Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment
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Cited by
Hu, C., Hart, S. N., Polley, E. C., Gnanaolivu, R., Shimelis, H., Lee, K. Y., Lilyquist, J., Na, J., Moore, R., Antwi, S. O., et al. (2018) · JAMA · doi:10.1001/jama.2018.6228 · Cited by 577
Personalized early detection and prevention of breast cancer: ENVISION consensus statement
Pashayan, N., Antoniou, A. C., Ivanus, U., Esserman, L. J., Easton, D. F., French, D., Sroczynski, G., Hall, P., Cuzick, J., Evans, D. G., et al. (2020) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-020-0388-9 · Cited by 438
Kurian, A. W., Ward, K. C., Howlader, N., Deapen, D., Hamilton, A. S., Mariotto, A., Miller, D., Penberthy, L. S., & Katz, S. J. (2019) · Journal of Clinical Oncology · doi:10.1200/jco.18.01854 · Cited by 387
Self-citationNational Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer
Childers, C. P., Childers, K. K., Maggard-Gibbons, M., & Macinko, J. (2017) · Journal of Clinical Oncology · doi:10.1200/jco.2017.73.6314 · Cited by 351
Samadder, N. J., Riegert-Johnson, D., Boardman, L., Rhodes, D., Wick, M., Okuno, S., Kunze, K. L., Golafshar, M., Uson, P. L. S., Mountjoy, L., et al. (2021) · JAMA Oncology · doi:10.1001/jamaoncol.2020.6252 · Cited by 304
Metadata
- Authors
- Kurian, A. W., Li, Y., Hamilton, A. S., Ward, K. C., Hawley, S. T., Morrow, M., McLeod, M. C., Jagsi, R., & Katz, S. J.
- Venue
- Journal of Clinical Oncology
- Published
- 2017-07-10
- Volume
- 35
- Issue
- 20
- Pages
- 2232-2239
- ISSN
- 0732-183X (ISSN-L)
- 1527-7755
- OpenAlex
- W2605654091
- Cited by
- 265
- References
- 37
- FWCI
- 22.75
- Type
- journal article
- Language
- en
- Open access
- green
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