Abstract
Colorectal cancer (CRC) is the fourth leading cause of cancer deaths worldwide. Genetic mutations have been linked to 5-10% of CRCs, with other environmental, genetic, and epigenetic factors influencing development and progression of the cancer. As individual cancers exhibit unique mutation patterns, identification of the distinctive CRC profile is essential to develop more effective target therapies. In this study, we used Ion Torrent Ampliseq Cancer Panel to sequence 737 loci from 45 cancer-related genes to identify genetic mutations in 93 human colorectal cancer samples. Sequencing analysis revealed frequent missense mutations in APC (17.2%), FBXW7 (10.8%), KRAS (50.5%), PIK3CA (10.8%), and TP53 (23.7%) in CRC samples of various histologic types, and additional mutations were also detected in other genes (BRAF, CTNNB1, NRAS, and SMAD4) at lesser frequencies. We also found common combination mutations between KRAS and TP53 (12.9%), KRAS and APC (8.6%), and KRAS and PIK3CA (8.6%). Sequencing individual human cancers may be the key to developing more effective drugs to target individual, cancer-specific mutations. Identifying the complete mutation profile in CRCs for the application of personalized and tailored targeted therapy is critical for developing new cancer treatments. We believe a faster and cost effective genotyping tool such as Ion Torrent sequencing technology will be greatly beneficial for the assignment of such specific therapeutics for CRCs in the near future.
Highlights
Colorectal cancer (CRC) is the second most common malignancy in women and the third most common in men worldwide
The sequenced data were processed and we found frequent mutations in the following genes: APC (17.2%), FBXW7 (11.8%), KRAS (51.6%), PIK3CA (10.8%), and TP53 (23.7%)
The APC mutation rate was twice as high in rectal samples vs. those from the colon, which is consistent with CRC COSMIC data [21], whereas the opposite was true for FBXW7 mutations
Summary
Colorectal cancer (CRC) is the second most common malignancy in women and the third most common in men worldwide. In 2012, nearly 1.4 million new CRC cases were reported and roughly 694,000 associated deaths occurred worldwide, making it the fourth most common cause of death from cancer [1]. The same year, China alone accounted for more than 253,000 cases and nearly 140,000 CRC deaths. 60% of all CRC cases are reported from developed regions, and men have a significantly higher incidence and mortality rate than women [2]. Despite continuing efforts to improve treatment options for colorectal cancer patients, the staggering incidence and high mortality rates prevail
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