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

Purpose of Review 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 translati...

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Bibliographic Details
Published in:Current genetic medicine reports 2020-06, Vol.8 (2), p.47-60
Main Authors: DeSouza, Bianca, Georgiou, Demetra
Format: Article
Language:English
Subjects:
Cancer
Cancer Genomics (K Snape and H Hanson
Colorectal cancer
Colorectal carcinoma
Genetic screening
Immune checkpoint inhibitors
Internal Medicine
Medicine
Medicine & Public Health
Morbidity
Phenotypes
Polyposis
Precision medicine
Section Editors
Topical Collection on Cancer Genomics
Translation
Citations: Items that this one cites
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Summary:Purpose of Review 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. Recent Findings 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. Summary 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.
ISSN:2167-4876
2167-4876
DOI:10.1007/s40142-020-00183-x