Hundreds of cases of cancer may be going undiagnosed every year due to a lack of genetic testing for Lynch syndrome, experts have warned.
Around 175,000 people in the UK have the genetic disorder which makes it harder for their bodies to repair mistakes when their DNA copies itself.
They have an up to 75% lifetime risk of cancer, with particularly high chances of bowel, ovarian, pancreatic and womb cancers. Womb, or endometrial, cancer is often the first type that women with Lynch syndrome develop.
Since 2020, guidelines from the National Institute for Health and Care Excellence (NICE) say everyone diagnosed with womb cancer should be tested for Lynch syndrome.
But analysis by The Institute of Cancer Research (ICR) in London found that less than a fifth of women diagnosed in 2019 (1,408 out of 7,928) were offered a tumour test to check for abnormal cells.
Of the 104 patients who were then identified as being eligible for genetic testing, only a quarter had a test result recorded. And of those 26 patients, 15 were found to have Lynch syndrome.
Cara Hoofe, 40, discovered she had Lynch syndrome after she was diagnosed with bowel cancer eight years ago. The cancer was confirmed almost a year after she had first raised concerns with her GP and the disease was already advanced.
Cara said: “Over the years that followed, I faced by far the most difficult physical and mental challenges of my life. I’ve undergone three major surgeries, countless minor procedures and over 20 cycles of chemotherapy.
“While I was undergoing treatment, the biopsy of my tumour indicated I might have an inherited condition called Lynch syndrome. I was referred for genetic counselling and after a blood test, this was confirmed, as it revealed I had a mutation in my MSH2 gene.”
Having Lynch syndrome means Cara’s lifetime risk of developing another primary bowel cancer or other types remains high. She was diagnosed with endometrial cancer in 2021 and underwent a full hysterectomy.
Cara said she wanted others to know that they can still lead a happy and healthy life with Lynch syndrome.
She added: “The silver lining is that with the knowledge of this risk, I am monitored regularly as part of the screening programme that is available for individuals at high risk.
“I don’t fear Lynch syndrome. For me, knowing is about having the opportunity for early intervention against cancers – I am one of the lucky ones to have that knowledge.
“Currently there is no way to eliminate your risk for Lynch syndrome, but there is always the chance that someone will never experience cancer if they have regular screenings that can pick up the disease at a pre-cancerous stage.”
Dr Catherine Huntley, a specialist public health doctor at the ICR who conducted the analyses, said: “Tumour testing followed by genetic testing is an effective way of identifying the three per cent of cases – approximately 240 people with endometrial cancer – every year caused by Lynch Syndrome.
“However, our study shows that historically testing rates appeared to be very low. It’s imperative that women with endometrial cancer have routine testing of their tumours to prevent opportunities to diagnose Lynch Syndrome being missed.”
People who are known to have Lynch syndrome can be offered preventative strategies such as taking taking aspirin. They can also be added to the recently launched English National Lynch Syndrome Registry which ensures patients are regularly called for bowel cancer screening.
Such monitoring could catch other cancers they may develop earlier, when treatment is more likely to be successful.
The study, funded by The Wellcome Trust and Cancer Research UK, also found there were significant delays for patients who did receive testing.
The median time from cancer diagnosis to germline testing was 315 days and the longest wait time was 837 days.
Professor Clare Turnbull, an expert in translational cancer genetics at the ICR, said: “Having a Lynch Syndrome diagnosis helps to guide more personalised cancer treatment but also enables families and relatives of that patient to be offered testing too.
“Relatives who have Lynch Syndrome can be referred to genetic services to help catch any cancers as early as possible.” The findings were published in the Journal of Medical Genetics.
