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Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members
Journal of Clinical Oncology, 09/03/09
Jarvinen HJ et al. – Long-term compliance in surveillance for CRC and EC exceeded 95% in Lynch syndrome. After 10 years of surveillance, no significant increase in mortality had occurred compared with mutation-negative relatives.
Methods- Cancer incidence and survival were determined after an 11.5-year follow-up in 242 mutation-positive and 367 mutation-negative participants
- Participants in 57 Lynch syndrome families with 14 different mutations were at 50% risk
- The median age was 36 years in mutation carriers and 42 years in mutation-negative participants
- None had had cancer of the Lynch syndrome type
- Compliance was 95.9% for the colonic surveillance and 97.1% for the gynecologic surveillance
- CRC occurred in 30 mutation-positive participants, and 74 participants had adenomas removed
- Three patients died of CRC
- Endometrial cancer (EC) occurred in 19 of 103 women at risk, and 48 women had prophylactic hysterectomy
- Six of 112 women at risk had ovarian cancer
- Cancer mortality rate was not significantly increased
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