Personal Genomic Testing as Part of the Complete Breast Cancer Risk Assessment: A Case Report
- 262 Downloads
Patient access and utilization of personal genomic testing is becoming increasingly common. We present a case of a patient’s personal genomic screening results leading to early detection of infiltrating breast ductal cell carcinoma via MRI scan. This case exemplifies the successful integration of personal genomic testing into the primary care setting, with the guidance and support of genetic counseling services. We discuss the scientific basis of the patient’s genome scan results and risk assessment, and how this informed her decision-making and subsequent screening. We also expound upon the role of personal genomic testing as compared to other screening tests in the complete breast cancer risk assessment.
KeywordsGenomics Personalized medicine Personal genomic testing Breast cancer SNP Case report Genome scan Risk assessment
The authors would like to acknowledge Heather Trumbower for her bioinformatics expertise and contributions to the manuscript. We would also like to thank Elissa Levin, April Lynch and Brenna Sweeney for their critical review of the manuscript.
Disclosure of Interest
All contributing authors have consented to the publication of this material, they have full control of all primary data and they agree to allow the journal to review the data if requested. Two of the authors were employed by Navigenics, Inc. at the time of manuscript submission.
- American Society of Breast Surgeons. (2006). BRCA genetic testing for patients with and without breast cancer. Retrieved June 29, 2011, from http://www.breastsurgeons.org/statements/PDF_Statements/BRCA_Testing.pdf.
- Antoniou, A. C., Spurdle, A. B., Sinilnikova, O. M., Healey, S., Pooley, K. A., Schmutzler, R. K., et al. (2008). Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. American Journal of Human Genetics, 82, 937–948.PubMedCrossRefGoogle Scholar
- Klinge, C. M., Blankenship, K. A., Risinger, K. E., Bhatnagar, S., Noisin, E. L., Sumanasekera, W. K., et al. (2005). Resveratrol and estradiol rapidly activate MAPK signaling through estrogen receptors alpha and beta in endothelial cells. Journal of Biological Chemistry, 280, 7460–7468.PubMedCrossRefGoogle Scholar
- Medco Health Solutions. (2009). National Pharmacogenomics Physician Survey: Who are the physicians adopting pharmacogenomics and how does knowledge impact adoption? Medco Clinical Research Brief. Retrieved December 5, 2011 from www.medcoresearch.com.
- National Comprehensive Cancer Network. (2011). NCCN Clinical Practice Guidelines in Oncology. Retrieved June 29, 2011, from http://www.nccn.org/professionals/physician_gls/f_guidelines.asp.
- National Institutes of Health. (2007). Cancer Genetic Markers of Susceptibility, database of Genotypes and Phenotypes. Retrieved 2007, from http://www.ncbi.nlm.nih.gov/gap.
- Navigenics, Inc. (2011). The science behind the Navigenics service. Retrieved June 29, 2011, from https://www.navigenics.com/static/pdf/Navigenics-TheScience.pdf.
- Rebbeck, T. R., DeMichele, A., Tran, T. V., Panossian, S., Bunin, G., Troxel, A. B., et al. (2009). Hormone-dependent effects of FGFR2 and MAP3K1 in breast cancer susceptibility in a population-based sample of post-menopausal African-American and European-American women. Carcinogenesis, 30, 269–274.PubMedCrossRefGoogle Scholar
- Reeves, G. K., Travis, R. C., Green, J., Bull, D., Tipper, S., Baker, K., et al. (2010). Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. Journal of the American Medical Association, 304, 426–434.PubMedCrossRefGoogle Scholar
- Ries, L. A. G., Harkins, D., Krapcho, M., Mariotto, A., Miller, B. A., Feuer, et. al. (2006). SEER Cancer Statistics Review. 1975–2003, National Cancer Institute. Retrieved 2007, from http://seer.cancer.gov/csr/1975_2003.