Around 1 in 30 of cases of colon cancer occur due to a genetic disease called Lynch Syndrome. Lynch Syndrome (LS) is not a rare disease: the World Health Organisation estimates that around 1 in 125 people have it (about half a million people in the UK). However 90-95% of people with LS are not aware they have the condition, although they may have a family history of cancer.

Most people with Lynch syndrome are well, but someone with LS has a 40-70% chance of developing colon cancer, and women also have a similar risk of cancer of the womb. All those with LS have an increased risk of many other types of cancer. The genetic mutations which cause Lynch Syndrome can be passed on from one generation to the next, with a 50% risk of a child inheriting this condition.

St Mark’s Hospital has the UK’s first specialist Lynch Syndrome Clinic and is leading the development of The Lynch Syndrome Cancer Prevention Study (‘LynC’ Study), comprising three interconnected studies which have the potential to develop a new model for LS cancer prevention. The programme has four main aims:

1) Effective diagnosis and identification of people with LS in the UK

2) Improve understanding of the biological mechanism of cancer development of people with LS

3) Develop additional tests which facilitate the prevention and early diagnosis of cancer in people with LS

4) Reduction in the variation of - and improvement in access to - care for people with LS in the UK

Involving collaboration across UK academic centres, the three new exciting integrated projects forming the LynC Study comprise:

Project 1: Use of multiple testing methods including faecal immunochemical testing (FIT) and breath biopsies to improve colon cancer screening and surveillance in individuals with Lynch Syndrome. This study will evaluate the use of non-invasive colorectal cancer screening methods alongside the existing use of colonoscopies.

Project 2: Development of a National Lynch Syndrome Registry, a national registry of people with LS which will provide an efficient system across the UK to identify and ensure people with LS are invited for regular check-ups at appropriate time intervals.

Project 3: A Study of genetic and immunological events in Lynch Syndrome and progression to colorectal cancer. Although most people with LS are on surveillance programs, the exact order of events that lead to cancer development in Lynch carriers is not fully understood.

Similar to the PROGRESS and IBD genetic marker projects that 40tude is also helping to fund, the LynC Study will help to improve patient risk stratification and ensure that patients at high risk of developing colon cancer receive the intensive monitoring and surveillance they require, whilst low risk patients are spared from unnecessary colonoscopies. Each of these exciting programmes will contribute important data towards the goal of achieving more personalised medical care in the future.

The above has been adapted from a project summary written by Dr Kevin Monahan, Lynch Syndrome & Family Cancer Clinic, St Mark’s Hospital