Data based on next-generation sequencing (NGS) of colorectal cancers (CRC) clearly show that up to 10% of all cases harbour pathogenic variants. Thus, NGS performed for all patients with CRC under the age of 50 could be a cost-effective strategy, leading to a personalized approach to patients and family members.
This is a preview of subscription content, access via your institution
Access options
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Bray, F. et al. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J. Clin. 68, 394–424 (2018).
Aaltonen, L. A. et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N. Engl. J. Med. 338, 1481–1487 (1998).
Stoffel, E. M. & Murphy, C. C. Epidemiology and mechanisms of the increasing incidence of colon and rectal cancers in young adults. Gastroenterology 158, 341–353 (2020).
Picó, M. D. et al. Clinical and pathological characterization of Lynch-like syndrome. Clin. Gastroenterol. Hepatol. 18, 368–374 (2020).
Lindor, N. M. et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: Familial colorectal cancer type X. J. Am. Med. Assoc. 293, 1979–1985 (2005).
Yurgelun, M. B. et al. Cancer susceptibility gene mutations in individuals with colorectal cancer. J. Clin. Oncol. 35, 1086–1095 (2017).
Yurgelun, M. B. et al. Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome. Gastroenterology 149, 604–613 (2015).
Pearlman, R. et al. Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol. 3, 464–471 (2017).
Archambault, A. N. et al. Cumulative burden of colorectal cancer – associated genetic variants is more strongly associated with early-onset versus late-onset cancer. Gastroenterology 158, 1274–1286 (2020).
Acknowledgements
The authors’ work was funded by the Italian Foundation for Cancer Research (AIRC) under Investigator Grant N. 21723 (to L.R.) and Investigator Grant N. 22234 (to L.L.).
Author information
Authors and Affiliations
Corresponding authors
Ethics declarations
Competing interests
The authors declare no competing interests.
Additional information
Related links
Alliance Against Cancer: https://www.alleanzacontroilcancro.it/en/progetti/gersom/
Rights and permissions
About this article
Cite this article
Laghi, L., Ricciardiello, L. The changing approach for identifying hereditary colorectal cancer syndromes. Nat Rev Gastroenterol Hepatol 17, 593–594 (2020). https://doi.org/10.1038/s41575-020-0348-y
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41575-020-0348-y