Reducing future cancer risk and saving lives through testing women with endometrial (womb) cancer for Lynch syndrome

Narrative

People with Lynch syndrome carry a mismatch repair gene defect, and DNA is not always copied correctly when cells divide. Lynch syndrome is an inherited condition and increases the risk of several cancers, including endometrial (womb) cancer and bowel cancer.

Bowel Cancer UK estimate that 175,000 people have Lynch syndrome in the UK but fewer than 5% of individuals know they have the condition. Identifying Lynch syndrome enables people to reduce their cancer risk by engaging in colonoscopy and aspirin chemoprevention, both of which have been shown to save lives from bowel cancer. It also enables cascade testing of at-risk family members.

Since 2017, people diagnosed with bowel cancer in England and Wales were routinely offered screening for Lynch syndrome but women with womb cancer were not. In women with lynch syndrome, womb cancer (which is relatively treatable) tends to develop before other more aggressive cancers and therefore identifying women with lynch can reduce the risk of developing other Lynch-syndrome associated cancers such as bowel cancer. Our research found that 3% of womb cancers are Lynch syndrome-associated rising to 5% in those aged under 70; women want to be tested for Lynch syndrome; and testing is both clinically effective and cost-effective.

We engaged with patients, support groups (Lynch syndrome-UK), gynaecological cancer charities (EveAppeal), national and international experts (Manchester International Consensus Group) to disseminate our findings.

As a result of our work, in October 2020, National Institute for Health and Care Excellence (NICE) issued new guidance confirming that all women diagnosed with womb cancer are now to be offered tests for Lynch syndrome meaning the relatives of those women with Lynch can also be tested. Cancer centres across England and Wales are already following these recommendations, thus our research has changed clinical practice.

Our research means that approximately 1000 people per year will now get a Lynch diagnosis they wouldn’t otherwise have had and will be moved into cancer surveillance. Implementation of the guideline means that an individual now identified with Lynch syndrome will be afforded the same life expectancy as someone who does not have the condition – a major breakthrough and improvement given the extent of their heightened risk. In July 2021, NHS England issued a handbook to support local systems in implementing Lynch syndrome testing and surveillance pathways for both bowel and womb cancer.

Impact date	2020
Category of impact	Health and wellbeing, Economic, Policy
Impact level	Adoption