From the Guidelines
For individuals with Lynch syndrome, colonoscopies should be performed every 1-2 years beginning at age 20-25 (or 2-5 years before the earliest colon cancer diagnosis in the family, whichever comes first). This recommendation is based on the most recent and highest quality study, which found that surveillance colonoscopy in patients with Lynch syndrome was associated with decreased burden of colorectal cancer and decreased colorectal cancer mortality 1. The study also found that frequent colonoscopy surveillance increased life expectancy by 7 years and was cost-effective.
Key Considerations
- Lynch syndrome significantly increases the risk of colorectal cancer, with lifetime risks ranging from 20-80% depending on the specific gene mutation 1.
- The condition causes defects in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2, or EPCAM), leading to accelerated cancer development 1.
- Cancers in Lynch syndrome patients often develop more rapidly than sporadic colorectal cancers, which is why the screening interval is shorter than for average-risk individuals.
- During colonoscopies, any polyps should be completely removed, as they can progress to cancer more quickly in Lynch syndrome patients.
Additional Recommendations
- In addition to colonoscopies, people with Lynch syndrome should discuss other cancer screening recommendations with their healthcare provider, as the condition also increases risk for endometrial, ovarian, stomach, and other cancers 1.
- The use of 600 mg of aspirin per day for at least 2 years has been shown to reduce the incidence of CRC and other Lynch syndrome-associated cancers by 60% 1.
Surveillance and Screening
- Colonoscopy should be repeated every 1 to 2 years, with no specific upper limit established, and should be based on the individual’s health status 1.
- Endometrial and ovarian cancer screening may be carried out on an annual basis from age 30–35 years with gynaecological examination, pelvic ultrasound, Ca125 analysis, and aspiration biopsy 1.
From the Research
Colonoscopy Frequency for Lynch Syndrome
- The European Society of Gastrointestinal Endoscopy (ESGE) recommends starting colonoscopy surveillance at the age of 25 years for MLH1 and MSH2 mutation carriers and at the age of 35 years for MSH6 and PMS2 mutation carriers 2.
- For patients with Lynch Syndrome, it is recommended to have early and regular endoscopic screening, with colonoscopy every one to two years from the age of 25 and then annually from the age of 40, or starting 10 years before the age of appearance of the youngest case of CRC in the family 3.
- Regular screening for Lynch syndrome reduces CRC-related mortality, and colonoscopy is the primary modality for screening, with emerging data on quality metrics, chromoendoscopy, artificial intelligence, and nonendoscopic modalities 4.
Screening Recommendations
- The ESGE recommends the routine use of high-definition endoscopy systems in individuals with Lynch syndrome, and suggests the use of chromoendoscopy may be of benefit, but routine use must be balanced against costs, training, and practical considerations 2.
- International guidelines are necessary to standardize Lynch syndrome high-risk clinics, and universal screening methods are being adopted to identify patients who would benefit from genetic counseling and germline testing 5.