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.
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.).
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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
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DOI: https://doi.org/10.1038/s41575-020-0348-y
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