Background: Lynch syndrome is a hereditary cancer syndrome caused by constitutional
pathogenic variants in the DNA mismatch repair (MMR) system, leading to increased risk of
colorectal, endometrial and other cancers. The study aimed to identify the incremental costs and
consequences of strategies to identify Lynch syndrome in women ...
Background: Lynch syndrome is a hereditary cancer syndrome caused by constitutional
pathogenic variants in the DNA mismatch repair (MMR) system, leading to increased risk of
colorectal, endometrial and other cancers. The study aimed to identify the incremental costs and
consequences of strategies to identify Lynch syndrome in women with endometrial cancer.
Methods: A decision-analytic model was developed to evaluate the relative cost-effectiveness of
reflex testing strategies for identifying Lynch syndrome in women with endometrial cancer
taking the NHS perspective and a lifetime horizon. Model input parameters were sourced from
various published sources. Consequences were measured using quality-adjusted life years
(QALYs). A cost-effectiveness threshold of £20 000/QALY was used.
Results: Reflex testing for Lynch syndrome using MMR immunohistochemistry and MLH1
methylation testing was cost-effective versus no testing, costing £14 200 per QALY gained.
There was uncertainty due to parameter imprecision, with an estimated 42% chance this strategy
is not cost-effective compared with no testing. Age had a significant impact on costeffectiveness, with testing not predicted to be cost-effective in patients aged 65 years and over.
Conclusions: Testing for Lynch syndrome in younger women with endometrial cancer using
MMR immunohistochemistry and MLH1 methylation testing may be cost-effective. Age cut-offs
may be controversial and adversely affect implementation.
