Abstract
Breast cancer is the leading cause of cancer in women and the second leading cause of cancer-related death. There are many subtypes of breast cancer, which can be identified through the process of molecular and genetic profiling. While the current standard of care utilizes tumor tissue biopsy to subclassify breast cancer, plasma tumor DNA (ptDNA) can be detected through droplet digital PCR (ddPCR) of plasma obtained from a simple blood draw. Tissue biopsy is not only more invasive but because tumors exhibit heterogeneity it can be less accurate. Blood collects DNA shed from normal and cancerous cells alike, thus ddPCR of plasma offers a broader picture of a cancer’s genetic makeup. This chapter summarizes how patients with breast cancer can be screened for specific cancerous mutations in both tissue and plasma through the use of ddPCR.
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References
American Cancer Society (2014) Breast cancer facts & figures 2013-2014. American Cancer Society Inc., Atlanta
Eckhardt BL, Francis PA, Parker BS, Anderson RL (2012) Strategies for the discovery and development of therapies for metastatic breast cancer. Nat Rev Drug Discov 11:479–497
Toy W, Shen Y, Won H et al (2013) ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. Nat Genet 45:1439–1445
Cancer Genome Atlas Network (2012) Comprehensive molecular portraits of human breast tumours. Nature 490:61–70
Robinson DR, Wu YM, Vats P et al (2013) Activating ESR1 mutations in hormone-resistant metastatic breast cancer. Nat Genet 45:1446–1451
Bose R, Kavuri SM, Searleman AC et al (2013) Activating HER2 mutations in HER2 gene amplification negative breast cancer. Cancer Discov 3:224–237
Gerlinger M, Rowan AJ, Horswell S et al (2012) Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med 366:883–892
Higgins MJ, Jelovac D, Barnathan E et al (2012) Detection of tumor PIK3CA status in metastatic breast cancer using peripheral blood. Clin Cancer Res 18:3462–3469
Swarup V, Rajeswari MR (2007) Circulating (cell-free) nucleic acids – a promising, non-invasive tool for early detection of several human diseases. FEBS Lett 581:795–799
Hodgson DR, Wellings R, Orr MC et al (2010) Circulating tumour-derived predictive biomarkers in oncology. Drug Discov Today 15:98–101
Casciano I, Vinci AD, Banelli B et al (2010) Circulating tumor nucleic acids: perspective in breast cancer. Breast Care (Basel, Switzerland) 5:75–80
Beaver JA, Jelovac D, Balukrishna S et al (2014) Detection of cancer DNA in plasma of patients with early-stage breast cancer. Clin Cancer Res 20:2643–2650
El Messaoudi S, Rolet F, Mouliere F, Thierry AR (2013) Circulating cell free DNA: preanalytical considerations. Clin Chim Acta 424:222–230
Oshiro C, Kagara N, Naoi Y et al (2015) PIK3CA mutations in serum DNA are predictive of recurrence in primary breast cancer patients. Breast Cancer Res Treat 150:299–307
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Medford, A.J., Gillani, R.N., Park, B.H. (2018). Detection of Cancer DNA in Early Stage and Metastatic Breast Cancer Patients. In: Karlin-Neumann, G., Bizouarn, F. (eds) Digital PCR. Methods in Molecular Biology, vol 1768. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7778-9_13
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DOI: https://doi.org/10.1007/978-1-4939-7778-9_13
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Publisher Name: Humana Press, New York, NY
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