Cancer Screening Ages for Women with Lynch Syndrome
Women with confirmed Lynch syndrome should begin colonoscopy surveillance at age 20-25 years (or 2-5 years before the youngest family member's colorectal cancer diagnosis if before age 25), and gynecologic surveillance at age 30-35 years. 1, 2
Colorectal Cancer Screening
Start colonoscopy at age 20-25 years for MLH1 and MSH2 mutation carriers 1, 2
- For MSH6 and PMS2 mutation carriers, colonoscopy can begin at age 35 years 2
- If a family member was diagnosed with colorectal cancer before age 25, start screening 2-5 years before that age 1
- Repeat colonoscopy every 1-2 years for MLH1 and MSH2 carriers 1, 2
- Annual colonoscopy (every 1 year) is recommended specifically for MLH1 and MSH2 carriers, particularly males and those aged 40-60 years 1
- No upper age limit has been established for stopping surveillance 2
This aggressive surveillance reduces colorectal cancer incidence by 62-77% 1, making it a critical mortality-reducing intervention.
Gynecologic Cancer Screening
Begin annual endometrial and ovarian cancer surveillance at age 30-35 years 1, 2, 3, 4
This includes:
- Annual transvaginal ultrasound 1, 2, 3, 4
- Annual endometrial sampling (office endometrial biopsy) 1, 2, 3, 4
- Annual gynecological examination 2
The lifetime risk of endometrial cancer in women with Lynch syndrome is 40-60%, which equals or exceeds their colorectal cancer risk 3, 4, 5. Ovarian cancer risk is 6-12% 4, 5.
Important Consideration for Gynecologic Surveillance
Prophylactic hysterectomy and bilateral salpingo-oophorectomy should be discussed when childbearing is complete, typically after age 35 years 2, 4. This is the most effective prevention strategy, as surveillance has limited efficacy in detecting early-stage gynecologic cancers.
Additional Surveillance
Gastric and Small Bowel Cancer
For selected individuals or families, particularly those of Asian descent with MLH1, MSH2, or EPCAM mutations, consider upper endoscopy (EGD) every 3-5 years starting at age 30-35 years 6
- Test for and eradicate Helicobacter pylori in all mutation carriers 6, 2
- Gastric cancer risk varies from 2-4% in Western populations to 30% in Korean populations 6
Urinary Tract Cancer
Annual urinalysis with cytology starting at age 30-35 years may be considered, particularly for MLH1, MSH2, or EPCAM mutation carriers 6, 2
- Risk is highest for MSH2 carriers (6.9%), compared to MLH1 (2.9%) and MSH6 (1.7%) 6
Central Nervous System Cancer
Annual physical and neurologic examination starting at age 25-30 years may be considered, though data supporting this practice are limited 6
Critical Pitfalls to Avoid
Do not delay genetic testing while waiting to reach screening age - genetic counseling and testing should occur as soon as Lynch syndrome is suspected 1
Do not rely solely on family history criteria - approximately 68% of patients with Lynch syndrome do not meet Amsterdam II criteria 1. Many women with Lynch syndrome-associated endometrial cancer present without traditional indicators: only 25% of cases occur before age 50, and 41% with germline mutations lack any traditional screening indicators 7.
Do not assume younger age at diagnosis - 20% of proven Lynch syndrome cases present after age 60 6, and the median age for endometrial cancer in Lynch syndrome is 49 years 5.
Chemoprevention Option
Daily aspirin (600 mg) may reduce colorectal cancer risk by 44% in Lynch syndrome and should be discussed with patients 1. Oral contraceptives are highly effective for decreasing both endometrial and ovarian cancer risk 5.