Main Menu

Lynch syndrome: First national NHS patient database of genetic condition aims to prevent cancer

An organoid derived from bowel cancer. Fluorescent tags have been added to different cells within the tumour microenvironment.

Image: A patient organoid, derived from metastatic deposits of bowel cancer. Credit: Somaieh Hedayat

A new database of all patients with Lynch syndrome aims to improve treatment and prevention for those at high-risk of cancer.

Lynch syndrome affects an estimated 1 in 279 people in England, but only five per cent of people know they have the condition. Lynch syndrome is a hereditary genetic condition which greatly increases the risk of cancer – including an increased lifetime risk of bowel cancer of up to 80 per cent – and can cause cancer to occur two decades earlier than in the general population.

Previously, the lack of access to combined hospital and genomic data has hindered research into the condition and its outcomes.

The first comprehensive database in the UK

To address this, the National Disease Registration Service (NDRS), NHS Genomic Medicine Service Alliances (GMSAs) and NHS Regional Clinical Genetics Services, together with researchers at The Institute of Cancer Research, London, set up the UK’s first comprehensive database registry for Lynch syndrome patients.

The English National Lynch Syndrome Registry can be linked to The National Cancer Registration Dataset, so that cancer diagnosis, treatment, and outcomes can be paired with the genomic data of Lynch syndrome patients.

This clinically rich source of data will be studied – by researchers at The Institute of Cancer Research (IC) and elsewhere – with the aim of finding tailored cancer prevention and treatment strategies which could significantly improve outcomes for patients with Lynch syndrome.

Preventing cancer through screening

The database will ensure that all patients with Lynch syndrome are called up for regular bowel cancer screening to detect the disease in earlier stages, when treatment is more successful. In addition, researchers will be able to find patients who are eligible for clinical trials, expediting the process and ensuring that treatments can reach patients faster.

By collecting data from across England, the Lynch syndrome database will identify regional differences in access and quality of care that patients experience, as well as their health outcomes.

Personalised cancer treatments

The database comprises over 9000 individual patients with Lynch syndrome, and it has been designed so that clinicians can easily add any patients diagnosed in future. This is expected to increase as the NHS rolls out Lynch syndrome tumour testing for everyone diagnosed with bowel or endometrial cancer, with a diagnosis for Lynch syndrome not only helping to guide more personalised cancer treatment but enabling their families and relatives to be offered testing too.

‘Immense value’

Dr Lucy Loong, Clinical Research Fellow in Translational Cancer Genetics at The Institute of Cancer Research, London, said:

“Large databases such as this are of immense value. By centralising patients’ genetic data, together with detailed information about the cancer diagnosis and treatments that these patients have received, researchers will gain crucial insights into Lynch syndrome. This will unlock new opportunities for precision medicine and prevention, ultimately improving the lives of patients living with the condition.”

The database will serve as a blueprint for other conditions

Professor Clare Turnbull, Professor of Translational Cancer Genetics at The Institute of Cancer Research, London, and Consultant in Clinical Cancer Genetics at The Royal Marsden NHS Foundation Trust, said:

“This is the first registry anywhere in the UK to collect data on all patients identified across the country with a specific genetic condition. We are confident that this will serve as a blueprint for establishing future registries of other conditions, for which there are already evidence-based interventions for screening and risk-reduction.”

One of the 9,000 people in the English National Lynch Syndrome Registry is Cara Hoofe. Cara was diagnosed with bowel cancer in 2016, at 32 years old. While undergoing treatment, the biopsy of her tumour indicated she might have Lynch syndrome. After a simple blood test, this was confirmed, and in 2021 she was diagnosed with womb cancer.

A photo of Cara Hoofe smiling

Image: Cara Hoofe

Cara said:

“A diagnosis of Lynch Syndrome can feel scary, and it comes with a lot of emotional decisions – such as the decision that I took to have preventative surgery to remove my ovaries, to reduce my risk of getting cancer again. But for me, knowing I have Lynch syndrome means there is an opportunity for early intervention. It gives me hope that researchers will use this database to find targeted, more effective treatments, so that one day, a diagnosis of Lynch Syndrome may not be as daunting.”

Read more about Cara's story.

Dr Steven Hardy, Head of Genomics and Rare Disease at the National Disease Registration Service, said:

“The National Lynch Registry is a fantastic achievement and reflects a huge collaborative effort across the clinical genomics and cancer communities. For the first time, we can look at rates of diagnosis and how this may vary across the country, and ensure Lynch patients are offered access to colonoscopic surveillance by sharing information with the NHS national bowel cancer screening programme.”

Dr Kevin Monahan, co-lead of the National Lynch Syndrome Transformation Project, said:

“A diagnosis of Lynch syndrome provides many opportunities to prevent bowel, gynaecological and other cancers. However, we have to know who has the condition so that we can provide them with life-saving interventions like colonoscopy and preventative surgery.  That’s why the National Lynch Registry is such a huge step forward, it’s game-changing for people with Lynch syndrome and their families.”


bowel cancer Clare Turnbull lynch syndrome lucy loong cara hoofe womb cancer
comments powered by Disqus