Advances in Hereditary Colorectal Cancer: Opportunities and Challenges for Clinical Translation

Over the last decade, tremendous progress has been made in our understanding, clinical evaluation, and management of hereditary colorectal cancer (CRC). This review provides an overview of recent developments and highlights opportunities and future challenges for clinical translation. Novel genes have been identified associated with predisposition to CRC and polyposis including, POLE, POLD1, NTHL1, MSH3, and RNF43. Genetic testing has transitioned from phenotype-specific single-gene testing to multigene panels, and universal screening programmes for Lynch syndrome (LS) have been widely implemented. In addition, CRC patients with LS can now access precision medicine through the recent discovery of immune checkpoint inhibitors and risk-reducing interventions. Our recent advances in hereditary CRC can significantly decrease cancer-related morbidity and mortality. However, several barriers to clinical translation have been reported. Further characterisation of novel and non-traditional CRC genes improved multi-disciplinary communication, and patient education is now required.