Lynch syndrome-associated endometrial cancer: prevention, screening and prognosis

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Lynch syndrome is caused by specific gene faults that make cancer more likely to occur. Lynch syndrome runs in families. Bowel cancer and womb cancer are more common in people with Lynch syndrome. When we know someone has Lynch syndrome, we offer colonoscopy, a camera test to look inside the bowel, to remove any bowel polyps before they become cancerous. This has been shown to save lives. To prevent womb cancer, some women have a hysterectomy once their family is complete. Others have womb cancer screening or take hormone treatments, even though we do not know if these things work. As many as 1 in 10 women with womb cancer may have Lynch syndrome, although most do not know it. If they knew about the Lynch syndrome, they may choose to have regular screening by colonoscopy to remove bowel polyps. They may also help other family members find out whether they have Lynch syndrome. Womb cancer that develops in women with Lynch syndrome may behave differently and have a different outlook compared with womb cancer that occurs in women without Lynch syndrome. No one has looked at this before.In this project, I will be conducting three studies: In Study 1, I will see how many patients with womb cancer have Lynch syndrome that they didn't know about. We can find this out by carrying out specific laboratory tests on the tumours. I will look at 200 women who gave blood and tumour samples for future research projects when they came in for their hysterectomy. I will also test 200 women with new diagnoses of womb cancer as they come through the department for their surgery. If the tumour studies suggest that Lynch syndrome may be present, we will carry out blood tests to see if the gene fault is there. This will be done on the stored blood sample or, for current patients, genetic testing will be carried out through the genetic counselling service in our hospital. We will find out how many women with womb cancer have Lynch syndrome. I will also find out how straightforward it is to test women with womb cancer for Lynch syndrome. I will see whether patients are happy for their tumours to be tested for Lynch syndrome and whether they are prepared to go for genetic counselling. I will see whether they want to undergo colonoscopy to identify and treat bowel polyps. I will also see how much screening for Lynch syndrome in women with womb cancer is likely to cost. This will help us develop guidelines for which patients with womb cancer should be tested for Lynch syndrome in the future. In Study 2, I will compare womb cancers from women who have Lynch syndrome with those who do not. Using specialised laboratory techniques, I will look to see how the tumours are different and how they are the same. I will look at whether the women with Lynch syndrome were more or less likely to die from their womb cancer than women without. This will help us understand womb cancer more and inform patients better in the future. Study 3 will look at how effective womb cancer screening and hormone treatments are at preventing womb cancer in women with Lynch syndrome. I will see whether being overweight and inactive make womb cancer more likely in women with Lynch syndrome. This will help us advise women properly when they know they have Lynch syndrome.