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4 Lynch Syndrome 121
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4.13 Conclusion
The diagnostic pathway for Lynch syndrome is relevant in the clinical management
of colorectal cancer. Conversely, effective diagnostic and therapeutic pathways can
improve survival in people with LS diagnosed with CRC and other cancers, and
impact on secondary prevention. LS is common and carries a high lifetime risk of
colorectal and other cancers, however there a range of risk-reducing interventions
in diagnosed patients. However, LS is underdiagnosed, with 95% of LS carriers
not known in the UK, and all CRC and EC should undergo diagnostic testing for
this condition. Identification of Lynch syndrome provides families with options
for secondary prevention (aspirin) and prophylactic surgery to reduce future risk
of cancer, of which treatment can carry high morbidity and mortality. It may be
described as 4 different diseases related to genotype and disease penetrance and
personalisation is therefore increasingly key to developing clinical management
strategies. There is recent and promising evolution of our understanding how risk
is modified with secondary prevention, barriers to immunotherapy resistance and
vaccine development.
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