‘Game-changing’ bowel cancer screening will be offered to 10,000 people with Lynch syndrome

By Liam On Feb 20, 2024

Thousands of people with a genetic condition that increases their risk of developing certain cancers will be offered preventive screening on the NHS.

About 175,000 people in England suffer from Lynch syndrome, but only 5 percent – equivalent to around 10,000 people – know they have it.

The hereditary condition increases the risk of developing colon cancer by 80 percent. Approximately 1,100 cases of colon cancer are caused by the syndrome each year.

The NHS will now invite patients for a bowel test every two years in an attempt to detect the disease at an earlier stage, when successful treatment is more likely.

Steve Russell, national director of screening and vaccinations for the NHS, said: ‘Our successful bowel cancer screening program already helps identify thousands of cancer cases every year.

‘Now thousands more people diagnosed with Lynch syndrome will also have regular colonoscopies to check for signs of cancer and detect the disease earlier.

Around 175,000 people in England suffer from Lynch syndrome, but only 5 percent of those with the hereditary condition know they have it

‘Ensuring that people we know are at greater risk of developing cancer are screened regularly is key to diagnosing cancer at an earlier stage, and I would encourage anyone who is invited to come forward and get screened at a local center near them.”

It is believed that one in 400 people in England have the condition, but only 10,000 people in England are on the Lynch syndrome register.

A simple blood test can diagnose the condition, which is then run through a regional genomic laboratory, sequenced and then returned to the referring doctor.

Although the syndrome does not directly cause cancer, the genetic changes can cause more abnormal cells to form, which then multiply and increase the risk of developing cancers, such as colon, prostate and endometrial cancer.

According to the NHS, for every 100 patients screened, 40 to 60 cases of bowel cancer are prevented.

Revealed: Everything You Need to Know About Lynch Syndrome

Lynch syndrome (LS) is a condition that can run in families. It is also known as hereditary non-polyposis colorectal cancer (HNPCC).

It is caused by a change in a gene called a mismatch repair gene. Carriers have no complaints.

But people with the syndrome have an increased risk of developing colon, uterine and ovarian cancer.

If your family has a history of developing these cancers when they are younger than 50, it is possible that they have the altered gene that causes LS.

Bowel cancer that does not run in the family usually develops in people over 50 years of age. But in people with LS, colon cancer usually develops between the ages of 40 and 50 or younger.

It is important that you are aware of your normal bowel habits, especially if you have or think you have LS.

Be aware of:

Blood on or in your stool (poo).

Diarrhea, constipation, or any other change in your bowel habits that lasts more than six weeks and has no apparent reason.

Unexplained weight loss.

Pain in the abdomen or back passage.

The feeling that you have not emptied your bowels properly after going to the toilet.

Source: Macmillan

During the screening appointment, patients are seen by a specialist team and assessed for a colonoscopy, which checks for polyps and signs of bowel cancer.

The checks will be offered at local bowel cancer screening centres, close to people’s homes, making it easier for people to get tested.

A diagnosis of Lynch syndrome not only helps guide more personalized cancer treatment, but also ensures that their families and relatives can be offered testing.

Nicola Theis, a university lecturer from Cheltenham, was diagnosed with the condition by her father.

She said: ‘It all started when my father was diagnosed with advanced bowel cancer in 2019 and was only given months to live, which was devastating for our family.

‘I had been researching the importance of genetics in finding the most appropriate treatment options and after his results confirmed that his cancer was linked to Lynch syndrome, he began receiving immunotherapy and incredibly, this treatment began to shrink his tumor.

Miraculously, he was cancer-free in less than a year and his scans have been clear ever since. I’m so glad he’s still with us.”

Genevieve Edwards, CEO of Bowel Cancer UK, said the charity expects ‘a huge improvement’ in outcomes for people with the condition.

She said: ‘Those diagnosed with Lynch syndrome will now have regular access to high-quality colonoscopy tests regardless of where they live in England.

“As the first country in the world to implement such a program, we are leading the way in improving care for people with Lynch syndrome and ultimately saving lives.”

The move comes nearly a year after the health care system began rolling out a genetic test for Lynch syndrome.

From April 2023, those diagnosed with bowel and endometrial cancer will be offered genomic testing, which studies DNA, allowing them to receive more personalized treatment.

Dr. Robert Logan, NHS England’s national specialist adviser for endoscopy and bowel screening, said bowel screening is ‘great news for patients’.

“Not only has genetic testing for the condition increased dramatically in less than five years, but we are also ensuring that patients diagnosed with Lynch syndrome receive the high-quality surveillance colonoscopy they need through the national screening program.”