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Abstract
Lung cancer is the most common malignancy and the leading cause of cancer deaths worldwide. While smoking is by far the leading cause of lung cancer, other environmental and genetic 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 lung cancer molecular profile is essential for developing more effective, tailored therapies. Until recently, personalized DNA sequencing to identify genetic mutations in cancer 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 76 human lung cancer samples. The sequencing analysis revealed missense mutations in KRAS, EGFR, 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
Lung cancer is the most common malignancy worldwide, and the leading cause of cancer related deaths
A total of 76 Lung cancer samples (Table 1) was analyzed using Ion Torrent Ampliseq Cancer Panel to identify mutations in 737 loci of 45 oncogenes and tumor suppressor genes in human lung cancers. These Lung cancer samples were all from Chinese patients ranging from 28–80 years old represented by 40 men with a mean age of 62 years and 36 women with a mean age of 59 years
Using a strict standard variant calling, we identified mutations in the following genes as listed in Table 1: BRAF, EGFR, ERBB2, KRAS, PIK3CA, PTEN, SMAD4, and TP53
Summary
Lung cancer is the most common malignancy worldwide, and the leading cause of cancer related deaths. In 2008, an estimated 1.61 million new cases were reported globally, accounting for 12.7% of all new cancers [1]. In China, lung cancer has the highest incidence of all new cancer cases in both men and women (21.7% in 2008) with more than a 24.9% mortality rate [2]. Women in China reported only a slightly higher incidence of lung cancer over breast cancer this same year; the mortality rate of lung cancer is more than 3 times higher than that of breast cancer (20.2% vs 6.1%, respectively) [2]. Lung cancer often exhibits nonspecific symptoms, and diagnosis often occurs at an advanced stage or after metastasis has already occurred [3]. While efforts continue to improve early diagnosis and treatment of lung cancer, the staggering incidence, poor prognosis, and considerable mortality rate prevails
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