Abstract
Colorectal cancer (CRC) is a major cause of cancer-related mortality worldwide. A complex interplay of environmental and genomic variables factors into its carcinogenesis. Familial CRC syndromes represent the minority of annual cases, but their observation over time has translated to a deeper understanding of sporadic cancer. We continue to learn more about well-established gene mutations associated with CRC (APC, KRAS, NRAS, BRAF), but have also uncovered newer molecular aberrancies, which play important roles in prognosis and treatment (microsatellite instability/deficient mismatch repair, HER2 amplification, NTRK fusions, among others). This chapter aims to describe the basic genomic underpinnings of familial and sporadic CRCs, touching on diagnostic and prognostic implications. We then focus on current targeted therapies and highlight emerging topics of interest.
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