The genomics of sporadic and hereditary colorectal cancer

Ann R Coll Surg Engl. 2024 Apr;106(4):313-320. doi: 10.1308/rcsann.2024.0024.

Abstract

Colorectal cancer (CRC) is a leading cause of cancer deaths worldwide. Over the past three decades, extensive efforts have sought to elucidate the genomic landscape of CRC. These studies reveal that CRC is highly heterogeneous at the molecular level, with different subtypes characterised by distinct somatic mutational profiles, epigenetic aberrations and transcriptomic signatures. This review summarises our current understanding of the genomic and epigenomic alterations implicated in CRC development and progression. Particular focus is given to how characterisation of CRC genomes is leading to more personalised approaches to diagnosis and treatment.

Keywords: chromosomal instability; colorectal cancer; genomics; microsatellite instability; molecular subtypes; serrated pathway.

Publication types

  • Review

MeSH terms

  • Colorectal Neoplasms* / genetics
  • Colorectal Neoplasms* / therapy
  • Gene Expression Profiling
  • Genomics
  • Humans
  • Microsatellite Instability