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Lynch Syndrome: Hereditary Colorectal Cancer Surveillance Strategy

Genetic predisposition to colorectal and other cancers requiring intensive surveillance

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Onkoloji department. Book Appointment →

What is Lynch Syndrome: Hereditary Colorectal Cancer Surveillance Strategy?

Lynch syndrome caused by germline mutations in mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or EPCAM deletion affecting DNA repair fidelity.

Lifetime cancer risks include colorectal cancer (40-80% depending on gene), endometrial cancer (40-60% in women), gastric, ovarian, urinary tract and other cancers.

Tumors typically demonstrate microsatellite instability and mismatch repair deficiency on testing.

Diagnosis requires germline genetic testing typically prompted by clinical features, family history or tumor characteristics.

Diverse mutation spectrum requires comprehensive testing of all four MMR genes and EPCAM.

Symptoms

Asymptomatic carriers identified through genetic testing prompted by family history or affected relative testing.
Cancer presentation typically at younger age than sporadic counterparts with often right-sided colorectal cancer location.
Multiple primary cancers in single individual or close relatives suggest Lynch syndrome.
Endometrial cancer in young women or family pattern of endometrial and colorectal cancers raises suspicion.
Other associated cancers including ovarian, gastric, urinary tract, pancreas, brain, sebaceous skin tumors.

Risk Factors

Family history of colorectal cancer particularly at young age, multiple cases or vertical transmission patterns.
Personal or family history of endometrial cancer particularly at young age.
Presence of multiple Lynch syndrome-associated cancers in single individual or close relatives.
Tumor characteristics including microsatellite instability or loss of mismatch repair proteins on immunohistochemistry.
Specific ethnic backgrounds with founder mutations including Ashkenazi Jewish populations.

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Family history meeting clinical criteria (Amsterdam, Bethesda) warrants genetic counseling referral.
  • Personal cancer diagnosis with Lynch syndrome features (young age, MMR-deficient tumor) warrants testing.
  • Identified Lynch syndrome carriers require establishment of surveillance program with gastroenterology, gynecology and other specialists.
  • Cascade testing for at-risk family members after pathogenic variant identification in proband.
  • New cancer-related symptoms or surveillance findings require prompt evaluation and management.

Treatment Methods

01
Comprehensive genetic counseling and germline testing to confirm diagnosis and identify specific gene mutation.
02
Intensive colonoscopic surveillance starting at age 20-25 every 1-2 years with thorough mucosal evaluation and chromoendoscopy considerations.
03
Gynecologic surveillance for women including transvaginal ultrasound, endometrial sampling and consideration of prophylactic hysterectomy/bilateral salpingo-oophorectomy after childbearing.
04
Aspirin chemoprevention consideration based on CAPP2 trial demonstrating reduced colorectal cancer risk in mutation carriers.
05
Comprehensive surveillance including upper endoscopy, urinary tract evaluation, dermatologic evaluation and management of identified cancers along with cascade testing for family members and ongoing genetic counseling optimizes outcomes for this heritable cancer syndrome.

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You can visit our Onkoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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