A new scheme funded by Yorkshire Cancer Research is helping to identify people with a high risk of developing bowel cancer.
An estimated 14,227 people living in Yorkshire have an inherited genetic condition called Lynch syndrome that increases their risk of developing bowel cancer by up to 80%.
But very few people with Lynch syndrome know they have it, and this means they are missing out on regular tests that can identify early signs of cancer.
Last year the National Institute for Health and Care Excellence (NICE) recommended that everyone diagnosed with bowel cancer should be screened for the genetic fault.
The guidance was a welcome step forward, but a lack of funding means that hospitals have been slow to implement the testing.
As part of a £1.5m region-wide bowel cancer improvement programme, Yorkshire Cancer Research has temporarily stepped in by offering tumour testing for bowel cancer patients living in the region.
So far, samples from more than 800 bowel cancer patients have been sent to pathologists at the University of Leeds, led by Professor Phil Quirke, to be screened for signs of Lynch syndrome.
The tumour test helps to identify if patients are likely to have the condition. If they are, they can then be referred to their regional NHS genetics service for counselling and to decide if they or their family want to have a genetic test to confirm or rule it out.
Once diagnosed, people with Lynch syndrome can access regular colonoscopies – an investigation of the lining of the bowel using a narrow, flexible, telescopic camera – and other tests designed to find cancer at the earliest possible stage or pick up abnormalities before they turn into cancer.
Doctors treating cancer patients with Lynch syndrome can also tailor treatment to their specific cancer type. Unnecessary treatment can be avoided because patients with cancer caused by Lynch syndrome are less likely to need chemotherapy after surgery.
So far, 20 bowel cancer patients tested by Yorkshire Cancer Research have shown signs of having Lynch syndrome. On average, a diagnosis of Lynch syndrome leads to the screening of three family members, meaning the charity is likely to have helped around 80 people already.
Yorkshire Cancer Research originally committed to funding tumour testing for 12 months, however due to ongoing issues identifying funding within the NHS, the charity has extended the scheme until the end of 2018. During this time the charity will continue to work with the NHS to ensure it becomes part of everyday practice.
Dr Nick West, a pathologist at Leeds Teaching Hospitals NHS Trust who is funded by Yorkshire Cancer Research, explains: “Pathologists analysing cancer specimens after surgery already produce a report containing a number of pieces of information that inform how a patient’s cancer is likely to behave and help us decide the best treatments to give. This testing enhances these reports and can have a much wider impact for relatively little financial cost, not just to the individual patient but to the patient’s wider family.”
Sam Lingard from Embsay, near Skipton, decided to be tested for Lynch syndrome four years ago after his father, Nigel, tested positive for the condition.
Nigel had been treated for bowel cancer in his small intestine at the age of 46 in 1999. When Sam’s great aunt began researching the family history, it became clear that Lynch syndrome might be a possibility.
Nigel’s brother – Sam’s uncle – tested negative, but doctors confirmed that both Sam and his brother did have the genetic fault.
“My grandfather died from cancer, and his brothers and sisters all had various cancers as well. We started speaking to doctors and nurses, and everything pointed to a family history of Lynch syndrome,” Sam, 36, explains.
“If one of your parents has Lynch syndrome, you have a 50/50 chance of inheriting the faulty gene, so both my brother and I chose to get tested. It never crossed my mind not to do it. While waiting for the results, I did go through my character traits and whether I looked more like my mum or my dad. None of that applies, but you do start to think about things like that.
“When I found out I did have Lynch syndrome, I was obviously disappointed, but it didn’t significantly affect me. I was pleased that I knew where I stood and was therefore getting the right investigation and treatment. It was a very positive endeavour.”
People with Lynch syndrome are usually diagnosed with bowel cancer at an early age. Bowel cancer that is not genetic tends to be diagnosed in people aged over 50.
Since older people are more likely to get bowel cancer, the current national NHS screening programme, involving a home testing kit, is only available to those aged 60 to 74. Another type of test, known as bowel scope screening, is available in some areas to people aged over 55.
At just 46, Sam’s father Nigel was younger than the average bowel cancer patient, and at first he was misdiagnosed with other illnesses. This meant that his cancer was found at a late stage, and he was lucky to be treated successfully.
Thanks to regular testing following his diagnosis with Lynch syndrome, a second tumour was discovered in Nigel’s large intestine. This time, the cancer was not as serious, and following surgery he once again made a full recovery.
Sam said: “It took a long time for my dad to be diagnosed the first time. He wasn’t able to eat, lost weight and was often sick. The doctors and consultants kept treating him for other stomach conditions because bowel cancer didn’t seem like a likely possibility.
“Now, I’m aware of the symptoms and would be alerted to them, and my doctor would be as well. Having regular colonoscopies also sets your mind at rest. The first time you have one of those tests it’s not very nice, but it’s not the end of the world. Compared to the benefits you get from knowing you don’t have cancer it really is a small price to pay.”
“We were probably at the forefront of Lynch syndrome testing and we feel lucky to have been able to take part in this important screening,” Sam adds. “I have two young children and when they reach the age of 18, if they choose to, they will be able to have the test done and undergo regular investigations if they need to. I’m very supportive of the scheme, and the funding being offered by Yorkshire Cancer Research.
“Bowel cancer is treatable if it’s caught at an early stage. I think there needs to be more awareness of Lynch syndrome, not just among the general public but also among GPs. People usually know about their close family history. I think they would quite quickly be able to establish if this is an issue or not. All it takes is a conversation with your GP and you can find out.”
April is Bowel Cancer Awareness Month. If you have a family history of bowel cancer and you are concerned about Lynch syndrome, please talk to your GP or consultant.
Early diagnosis saves lives. The main symptoms of bowel cancer are:
- a persistent change in bowel habit – going more often, with looser stools and sometimes tummy (abdominal) pain
- blood in the stools without other piles (haemorrhoids) symptoms – this makes it unlikely the cause is haemorrhoids
- abdominal pain, discomfort or bloating always brought on by eating – sometimes resulting in a reduction in the amount of food eaten and weight loss
If you notice any unusual changes to your body, please talk to your doctor straight away.
Notes to Editors
- Harrogate-based Yorkshire Cancer Research was founded in 1925 and is the largest independent regional cancer charity in England (Registered Charity 516898). We are not part of a national charity.
- We are committed to reducing the devastating impact of cancer on the lives of people living in Yorkshire.
- Our mission is to work in partnership, fund research and support initiatives that will help people in Yorkshire avoid, survive and cope with cancer.
- Current statistics show that 575 people are diagnosed with cancer in Yorkshire every week. Incidence and mortality rates are higher than the England average due to social deprivation, post-industrialisation and lifestyle choices but also availability of healthcare services and difficulties accessing early diagnostics, clinical trials and the latest treatments.
- We aim to:
- Be the leading authority on cancer in Yorkshire, understanding the problems and priorities in the region and sharing knowledge with partners.
- Raise awareness of cancer and how to prevent it by working in local communities, schools and colleges, sports clubs and with other health-related organisations.
- Promote screening programmes and fund research that can improve the diagnosis of cancer so we can detect and treat it at the earliest opportunity.
- Invest in innovative research projects at every stage of a cancer patient's journey.
- Campaign for fair and equal access to the very best healthcare services and a greater share of the money spent nationally on research.
- For further information, please visit www.yorkshirecancerresearch.org.uk or follow us on Facebook or Twitter