Genetic-Based Biomarkers and Next-Generation Sequencing: The Future of Personalized Care in Colorectal Cancer

Abstract

The past 5 years have witnessed extraordinary advances in the field of DNA sequencing technology. What once took years to accomplish with Sanger sequencing can now be accomplished in a matter of days with next-generation sequencing (NGS) technology. This has allowed researchers to sequence individual genomes and match combinations of mutations with specific diseases. As cancer is inherently a disease of the genome, it is not surprising to see NGS technology already being applied to cancer research with promises of greater understanding of carcinogenesis. While the task of deciphering the cancer genomic code remains ongoing, we are already beginning to see the application of genetic-based testing in the area of colorectal cancer. In this article we will provide an overview of current colorectal cancer genetic-based biomarkers, namely mutations and other genetic alterations in cancer genome DNA, discuss recent advances in NGS technology and speculate on future directions for the application of NGS technology to colorectal cancer diagnosis and treatment.

KEYWORDS::

• adenocarcinoma
• antineoplastic agents
• biological analysis
• biomarkers
• cetuximab
• colorectal neoplasms
• EGFR inhibition
• etiology
• genetics
• genomics
• humans
• panitumumab
• sequencing
• targeted therapies
• tumor markers

Financial & competing interests disclosure

Hanlee Ji is supported by the following grants from the NIH: 5K08CA96879–6, DK56339, and 2P01HG000205. In addition, Hanlee Ji received support from the Doris Duke Clinical Foundation, Reddere Foundation, the Liu Bie Ju Cha and Family Fellowship in Cancer, the Wang Family Foundation and the Howard Hughes Medical Foundation. Samuel Myllykangas received support from the Sigrid Jusélius Foundation and the Academy of Finland. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Additional information

Funding

Hanlee Ji is supported by the following grants from the NIH: 5K08CA96879–6, DK56339, and 2P01HG000205. In addition, Hanlee Ji received support from the Doris Duke Clinical Foundation, Reddere Foundation, the Liu Bie Ju Cha and Family Fellowship in Cancer, the Wang Family Foundation and the Howard Hughes Medical Foundation. Samuel Myllykangas received support from the Sigrid Jusélius Foundation and the Academy of Finland. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.