The identification of individuals carrying cancer susceptibility genetic variants could be improved by peridiagnostic cancer genetic testing and cascade testing of the relatives of patients diagnosed with cancer. Herein we discuss two studies that highlight the importance of active involvement of the medical team, both in informing the relatives and offering pre-test telephone genetic counselling.
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References
Turnbull, C., Sud, A. & Houlston, R. S. Cancer genetics, precision prevention, and a call to action. Nat. Genet. 50, 1212–1218 (2018).
Offit, K. et al. Cascading after peridiagnostic cancer genetic testing: an alternative to population-based screening. J. Clin. Oncol. https://doi.org/10.1200/JCO.19.02010 (2020).
Frey, M. K. et al. Prospective feasibility trial of a novel strategy of facilitated cascade genetic testing using telephone counseling. J. Clin. Oncol. https://doi.org/10.1200/JCO.19.02005 (2020).
Evans, D. G. et al. Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives. Clin. Genet. 75, 124–132 (2009).
Brooks, L. et al. BRCA1/2 predictive testing: a study of uptake of two centres. Eur. J. Hum. Genet. 12, 654–662 (2004).
Fehniger, J., Lin, F., Beattie, M. S., Joseph, G. & Kaplan, C. Family communication of BRCA1/2 results and family uptake of BRCA1/2 testing in a diverse population of BRCA1/2 carriers. J. Genet. Counsel 22, 603–612 (2013).
Møller, P. et al. Genetic epidemiology of BRCA mutations — family history detects less than 50% of the mutation carriers. Eur. J. Cancer 43, 1713–1717 (2007).
Hoskins, P. J. & Gotlieb, W. H. Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: a review of the literature. CA Cancer J. Clin. 67, 493–506 (2017).
US Preventive Services Task Force. Risk assessment, genetic counselling and genetic testing for BRCA related cancer. US Preventive services Task Force recommendation statement. JAMA 322, 652–665 (2019).
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Pashayan, N., Turnbull, C. Peridiagnostic and cascade cancer genetic testing. Nat Rev Clin Oncol 17, 277–278 (2020). https://doi.org/10.1038/s41571-020-0348-4
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DOI: https://doi.org/10.1038/s41571-020-0348-4