Abstract
BackgroundLynch 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.MethodsA 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.ResultsReflex 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 cost-effectiveness, with testing not predicted to be cost-effective in patients aged 65 years and over.ConclusionsTesting 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.
Highlights
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
Lynch syndrome (LS) is a hereditary cancer syndrome caused by pathogenic variants in the mismatch repair (MMR) genes which leads to an increased risk of cancers, colorectal cancer (CRC) and endometrial cancer (EC) [1]
Programmes testing all endometrial cancer patients up to age 70 or 80 years would be costeffective compared to no testing, even though they would not be cost-effective compared to a programme using an optimised age threshold
Summary
Lynch syndrome (LS) is a hereditary cancer syndrome caused by pathogenic variants (mutations) in the mismatch repair (MMR) genes which leads to an increased risk of cancers, colorectal cancer (CRC) and endometrial cancer (EC) [1]. Around 1 in 300 of the general population is born with a pathogenic variant in an MMR gene (estimates include 1 in 370 [2] and 1 in 279 [3]), but these are overrepresented in cancer patients, and young cancer patients. LS is typically identified through cancer-affected individuals and testing is typically driven by tumour-based triage tests. 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.
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