What are the screening recommendations for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)?

From the Guidelines

Individuals with Lynch syndrome should undergo regular cancer screening starting at age 20-25 or 2-5 years before the earliest cancer diagnosis in the family, whichever comes first, to reduce the risk of colorectal and endometrial cancers, which are significantly increased in this population, with a lifetime risk of up to 80% for colorectal cancer and up to 60% for endometrial cancer in women 1. The screening recommendations for individuals with Lynch syndrome include:

• Colonoscopy every 1-2 years to detect colorectal cancer early, as the adenoma-carcinoma sequence is faster in patients with Lynch syndrome 1
• Annual endometrial sampling and transvaginal ultrasound for women to detect endometrial cancer, which is a significant risk in women with Lynch syndrome, with a 60% lifetime risk 1
• Consideration of upper endoscopy every 3-5 years to detect gastric cancer, particularly in populations with a high incidence of gastric cancer 1
• Annual physical examinations with pelvic examination for women to detect other cancers, such as ovarian cancer
• Urinalysis with cytology should be considered annually, particularly in families with a history of urinary tract cancers, to detect urinary tract cancers early These intensive screening protocols are necessary because Lynch syndrome significantly increases the lifetime risk for various cancers, including colorectal, endometrial, ovarian, gastric, urinary tract, small bowel, pancreatic, and other cancers, due to inherited mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or EPCAM, leading to microsatellite instability and accelerated cancer development 1. Regular screening allows for early detection when cancers are more treatable, significantly improving survival outcomes. Some studies have shown that aspirin use can reduce the incidence of colorectal cancer and other Lynch syndrome-associated cancers, with a significant 60% reduction in the incidence of CRC and other Lynch syndrome-associated cancers among those using 600 mg of aspirin per day for at least 2 years 1. However, the use of aspirin for chemoprevention should be individualized and discussed with a healthcare provider. It is essential to note that these screening recommendations are based on the most recent and highest-quality evidence available, and may be tailored based on specific family history patterns and individual risk factors 1.

From the Research

Screening Recommendations for Lynch Syndrome

The following are the screening recommendations for Lynch syndrome:

• Colonoscopy is the primary modality for screening for Lynch syndrome 2
• Regular screening for Lynch syndrome reduces CRC-related mortality 2, 3
• Screening for colorectal cancer in Lynch syndrome enables early detection and likely cancer prevention 2
• For extracolonic cancer, a benefit of surveillance is evident only for endometrial cancer 3
• Current gynecologic cancer screening guidelines for women with Lynch syndrome include:
  • Annual endometrial sampling 4
  • Transvaginal ultrasonography beginning at age 30 to 35 years 4
  • Endometrial biopsy and transvaginal pelvic ultrasonography can be offered as part of surveillance 5
  • CA125 tumor marker assessment can be offered as part of surveillance 5
• Combined colonoscopy and endometrial biopsy cancer screening is feasible and provides a less painful and more satisfactory experience for women with Lynch syndrome 6
• Screening with endometrial biopsy every 1-2 years is effective in the early detection of (pre)cancerous lesions 6