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Abstract
Breast cancer is the most common malignancy and the leading cause of cancer deaths in women worldwide. While specific genetic mutations have been linked to 5–10% of breast cancer cases, other environmental and epigenetic factors influence the development and progression of the cancer. Since unique mutations patterns have been observed in individual cancer samples, identification and characterization of the distinctive breast cancer molecular profile is needed to develop more effective target therapies. Until recently, identifying genetic cancer mutations via personalized DNA sequencing was impractical and expensive. The recent technological advancements in next-generation DNA sequencing, such as the semiconductor-based Ion Torrent sequencing platform, has made DNA sequencing cost and time effective with more reliable results. Using the Ion Torrent Ampliseq Cancer Panel, we sequenced 737 loci from 45 cancer-related genes to identify genetic mutations in 105 human breast cancer samples. The sequencing analysis revealed missense mutations in PIK3CA, and TP53 genes in the breast cancer samples of various histologic types. Thus, this study demonstrates the necessity of sequencing individual human cancers in order to develop personalized drugs or combination therapies to effectively target individual, breast cancer-specific mutations.
Highlights
Breast cancer is both the leading cancer and cancer-related death in women, with nearly 1.7 million new cases diagnosed and over half a million deaths reported globally in 2012 [1]
The detailed list of missense, point mutations, insertions and deletions profiled on the 737 loci of 45 tumor suppressor and oncogenes in 105 breast cancer samples is listed in the Table S5
We mainly identified mutations focused along two hotspot loci, PIK3CA and TP53 in the breast cancer genomes of our sample set
Summary
Breast cancer is both the leading cancer and cancer-related death in women, with nearly 1.7 million new cases diagnosed and over half a million deaths reported globally in 2012 [1]. The staggering incidence indicates that further screening, therapeutics, and preventative measures are necessary to reduce the rate of breast cancer and improve the prognosis of the disease. Genetics are estimated to be the primary causal factor in 5–10% of breast cancers, while all others develop spontaneously with an accumulation of genetic and epigenetic changes [7]. The best characterized of these hereditary mutations are in BRCA1 and BRCA2 genes, which can interfere with repair of DNA cross links and DNA double strand breaks. These inherited mutations pose a lifetime risk of developing breast cancer between 40% and 80%, indicating cancer is not inevitable for carriers of these mutations [8,9]. Characterized on the breast cancer cells are three important receptors: estrogen receptor (ER), progesterone receptor (PR), and ERBB2 (Her2), and the presence of these receptors can influence prognosis and treatment [12]
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