Colorectal Cancers: Recent Advancements in Diagnostic and Preventive Strategies of Hereditary Tumours (Lynch Syndrome)
Keywords:
Lynch syndrome, colorectal cancer, aspirin, chemoprevention
Abstract
Lynch syndrome, is one of the most common hereditary colorectal cancer predisposition conditions, is characterised by an increased risk to a spectrum of cancers, primarily colorectal and endometrial cancers. We highlight the urgent need to diagnose, explain diagnostic methodologies and several cancer risks reducing interventions in these patients and their relatives. We highlight the role of aspirin as a potent chemo preventive agent in Lynch syndrome patients and discuss patient groups where the dose and duration of the intervention may require personalisation. With new genetic technologies on the horizon, early detection of these patients coupled with targeted chemo preventive intervention could potentially lead to the reduction of the cancer burden in India.
Conflict of Interest: The authors declare no conflict of interest.
Source of Support: HS is funded by the Gujarat State Biotechnology Mission grant (667020).
References
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8. Gallon R, Sheth H, Hayes C, Redford L, Alhilal G, O’Brien O, et al. Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics. Hum Mutat. 2020;41(1):332-41. doi: 10.1002/humu. 23906.
9. Redford L, Alhilal G, Needham S, O’Brien O, Coaker J, Tyson J, et al. A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective
high volume low cost discrimination between mismatch repair deficient and proficient tumours. PLoS One. 2018;13(8):e0203052-e. doi: 10.1371/journal.pone.0203052.
PubMed PMID: 30157243.
10. Snowsill T, Coelho H, Huxley N, Jones-Hughes T, Briscoe S, Frayling IM, et al. Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation. Southampton(UK):NIHR Journals Library: 2017.
11. Crosbie EJ, Ryan NAJ, Arends MJ, Bosse T, Burn J, Cornes JM, et al. The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome. Genetics in Medicine. 2019;21(10):2390-400. doi: 10.1038/s41436-019-0489-y.
12. Gallon R, Gawthorpe P, Phelps RL, Hayes C, Borthwick GM, Santibanez-Koref M, et al. How Should We Test for Lynch Syndrome? A Review of Current Guidelines and
Future Strategies. Cancers. 2021;13(3):406. PubMed PMID: doi:10.3390/cancers13030406.
13. Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez‐Rodriguez R, Sánchez‐Guillén L, et al. European guidelines from the EHTG and ESCP for Lynch syndrome:
an updated third edition of the Mallorca guidelines based on gene and gender. British Journal of Surgery. 2021;108(5):484- 98. doi: 10.1002/bjs.11902.
14. Lok P, Dijk S. Offer daily aspirin to cut risk of colorectal cancer in people with Lynch syndrome, says NICE. BMJ. 2019;366:l5010. doi: 10.1136/bmj.l5010.
15. USPSTF. Aspirin Use to Prevent Cardiovascular Disease and Colorectal Cancer: Preventive Medication 2016 [cited 2021]. Available from: https://www.uspreventiveservicestaskforce. org/uspstf/document/evidence-summary-aspirin-to-prevent- cancer/aspirin-to-prevent-cardiovascular-disease-andcancer.
16. Burn J, Sheth H, Elliott F, Reed L, Macrae F, Mecklin J-P, et al. Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial. The Lancet. 2020;395(10240):1855-63. doi: 10.1016/S0140-6736(20)30366-4.
Cancers in 185 Countries. CA: A Cancer Journal for Clinicians. 2021;71(3):209-49. doi: https://doi.org/10.3322/caac.21660.
2. Thomas VM, Baby B, Wang K, Lei F, Chen Q, Huang B, et al. Trends in colorectal cancer incidence in India. Journal of Clinical Oncology. 2020;38(15_suppl):e16084-e. doi: 10.1200/ JCO.2020.38.15_suppl.e16084.
3. Burn J, Sheth H. Colon cancer prevention. Cancer Prevention and Screening 2018. p. 183-202.
4. Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP. Milestones of Lynch syndrome: 1895–2015. Nature Reviews Cancer. 2015;15(3):181-94. doi: 10.1038/nrc3878.
5. WHO. WHO Classification of Tumours. Digestive System Tumours. Fifth Edition. 5 ed2019.
6. Cohen SA, Pritchard CC, Jarvik GP. Lynch Syndrome: From Screening to Diagnosis to Treatment in the Era of Modern Molecular Oncology. Annual Review of Genomics and Human Genetics. 2019;20(1):293-307. doi: 10.1146/annurev-genom- 083118-015406. PubMed PMID: 30848956.
7. NICE. Molecular testing strategies for Lynch syndrome in people with colorectal cancer 2017 [cited 2020 10/05/2020]. Available from: https://www.nice.org.uk/guidance/dg27.
8. Gallon R, Sheth H, Hayes C, Redford L, Alhilal G, O’Brien O, et al. Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics. Hum Mutat. 2020;41(1):332-41. doi: 10.1002/humu. 23906.
9. Redford L, Alhilal G, Needham S, O’Brien O, Coaker J, Tyson J, et al. A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective
high volume low cost discrimination between mismatch repair deficient and proficient tumours. PLoS One. 2018;13(8):e0203052-e. doi: 10.1371/journal.pone.0203052.
PubMed PMID: 30157243.
10. Snowsill T, Coelho H, Huxley N, Jones-Hughes T, Briscoe S, Frayling IM, et al. Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation. Southampton(UK):NIHR Journals Library: 2017.
11. Crosbie EJ, Ryan NAJ, Arends MJ, Bosse T, Burn J, Cornes JM, et al. The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome. Genetics in Medicine. 2019;21(10):2390-400. doi: 10.1038/s41436-019-0489-y.
12. Gallon R, Gawthorpe P, Phelps RL, Hayes C, Borthwick GM, Santibanez-Koref M, et al. How Should We Test for Lynch Syndrome? A Review of Current Guidelines and
Future Strategies. Cancers. 2021;13(3):406. PubMed PMID: doi:10.3390/cancers13030406.
13. Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez‐Rodriguez R, Sánchez‐Guillén L, et al. European guidelines from the EHTG and ESCP for Lynch syndrome:
an updated third edition of the Mallorca guidelines based on gene and gender. British Journal of Surgery. 2021;108(5):484- 98. doi: 10.1002/bjs.11902.
14. Lok P, Dijk S. Offer daily aspirin to cut risk of colorectal cancer in people with Lynch syndrome, says NICE. BMJ. 2019;366:l5010. doi: 10.1136/bmj.l5010.
15. USPSTF. Aspirin Use to Prevent Cardiovascular Disease and Colorectal Cancer: Preventive Medication 2016 [cited 2021]. Available from: https://www.uspreventiveservicestaskforce. org/uspstf/document/evidence-summary-aspirin-to-prevent- cancer/aspirin-to-prevent-cardiovascular-disease-andcancer.
16. Burn J, Sheth H, Elliott F, Reed L, Macrae F, Mecklin J-P, et al. Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial. The Lancet. 2020;395(10240):1855-63. doi: 10.1016/S0140-6736(20)30366-4.
Published
2021-06-29
How to Cite
Dr. Harsh Sheth, Dr. Abhinav Jain. (2021). Colorectal Cancers: Recent Advancements in Diagnostic and Preventive Strategies of Hereditary Tumours (Lynch Syndrome). The Indian Practitioner, 74(6), 50-53. Retrieved from https://articles.theindianpractitioner.com/index.php/tip/article/view/1199
Section
Clinical Practice
