The following are current gene-specific medical management recommendations for individuals Lynch syndrome. Of note, other than the recommendations for colon and endometrial cancer, these recommendations are based on expert opinion rather than evidence-based. MLH1, MSH2, EPCAM Surveillance - Colonoscopy with polypectomy beginning at age 20-25
- If a relative was diagnosed with colon cancer prior to age 25, begin colonoscopy 2-5 years prior to that relative's diagnosis.
- Repeat every 1-2 years
- Annual physical examination including neurologic examination beginning at age 25-30
- Consider EGD with extended duodenoscopy beginning at age 40 years
- Consider annual dermatological exams
- Consider annual pancreas cancer imaging (alternating between EUS and MRI) if family history includes close relative(s) with pancreas cancer
- Begin at age 50 or 10 years earlier than the youngest diagnosis of pancreatic cancer in the family, whichever is earliest.
- Consider yearly urinalysis beginning at age 30-35
- Consider yearly prostate cancer screening begining at age 40 with PSA blood test
Risk Reduction
- Women: Consider prophylactic hysterectomy and bilateral salpingo-oophorectomy (removal of the uterus, ovaries, and fallopian tubes) when childbearing is complete.
- If not pursuing these risk-reducing surgeries:
- Be aware of and report dysfunctional uterine bleeding, abdominal or pelvic pain, bloating, difficulty eating, and/or increased urinary frequency or urgency if symptoms persist for several weeks
- Consider yearly endometrial sampling beginning at age 30-35, every 1-2 years
- Consider use of hormonal birth control for risk reduction
- Consider taking daily aspirin for colon cancer risk reduction
- Consider H.pylori testing and treating if detected
| MSH6
Surveillance
- Colonoscopy with polypectomy beginning at age 30-35
- If a relative was diagnosed with colon cancer prior to age 25, begin colonoscopy 2-5 years prior to that relative's diagnosis.
- Repeat every 1-2 years
- Annual physical examination including neurologic examination beginning at age 25-30
- Consider EGD with extended duodenoscopy beginning at age 40 years
- Consider annual dermatological exams
- Consider annual pancreas cancer imaging (alternating between EUS and MRI) if family history includes close relative(s) with pancreas cancer
- Begin at age 50 or 10 years earlier than the youngest diagnosis of pancreatic cancer in the family, whichever is earliest.
- Consider yearly urinalysis beginning at age 30-35
- Consider yearly prostate cancer screening begining at age 40 with PSA blood test
Risk Reduction
- Women: Consider prophylactic hysterectomy and bilateral salpingo-oophorectomy (removal of the uterus, ovaries, and fallopian tubes) when childbearing is complete.
- If not pursuing these risk-reducing surgeries:
- Be aware of and report dysfunctional uterine bleeding, abdominal or pelvic pain, bloating, difficulty eating, and/or increased urinary frequency or urgency if symptoms persist for several weeks
- Consider yearly endometrial sampling beginning at age 30-35, every 1-2 years
- Consider use of hormonal birth control for risk reduction
- Consider taking daily aspirin for colon cancer risk reduction
- Consider H.pylori testing and treating if detected
| PMS2 Surveillance - Colonoscopy with polypectomy beginning at age 30-35
- If a relative was diagnosed with colon cancer prior to age 25, begin colonoscopy 2-5 years prior to that relative's diagnosis.
- Repeat every 1-2 years
- Annual physical examination including neurologic examination beginning at age 25-30
- Consider EGD with extended duodenoscopy beginning at age 40 years
- Consider annual dermatological exams
- Consider yearly urinalysis beginning at age 30-35
- Consider yearly prostate cancer screening begining at age 40 with PSA blood test
Risk Reduction
- Women: Consider prophylactic hysterectomy and bilateral salpingo-oophorectomy (BSO: removal of the uterus, ovaries, and fallopian tubes) when childbearing is complete. Notably, there is insufficient evidence to support the utility of BSO.
- If not pursuing these risk-reducing surgeries:
- Be aware of and report dysfunctional uterine bleeding, abdominal or pelvic pain, bloating, difficulty eating, and/or increased urinary frequency or urgency if symptoms persist for several weeks
- Consider yearly endometrial sampling beginning at age 30-35, every 1-2 years
- Consider use of hormonal birth control for risk reduction
- Consider taking daily aspirin for colon cancer risk reduction
- Consider H.pylori testing and treating if detected
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Resources Patient factsheet about Lynch Syndrome.
| 2020 Provider Education Presentations
Presenter: Priyanka Kanth, MD, MSCI, FACG Talk: Surveillance Recommendations
Presenter: Joanne Jeter, MD
Talk: Chemoprevention in Lynch Syndrome
Talk: Gastroinestinal Surgerical Considerations with Lynch Syndrome
Talk: Gynecological Risk Reduction in Lynch Syndrome
| Pancreatic Cancer Surveillance (2021 Updated Presentations)
Talk: High Risk Pancreatic Cancer Surveillance
Talk: Use of Endoscopic Ultrasound to diagnose PDAC in high risk patients
Talk: Hereditary Pancreatic Cancer: A Surgeon's Perspective
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