Significant Gaps in Testing for Genetic Cancer Risk, Study Finds

Lynch syndrome and womb cancer risk

A study led by the University of Edinburgh reveals that patients diagnosed with womb cancer are often not tested for Lynch syndrome, a genetic condition that significantly increases the risk of developing multiple cancers, including womb and bowel cancer. Despite National Health Service (NHS) guidelines suggesting testing for Lynch syndrome, fewer than half of the eligible patients receive the necessary blood test.

Genetic testing for Lynch syndrome

Lynch syndrome affects approximately one in 300 individuals, but it remains undiagnosed in many people, with only about five percent of those with the condition being aware of it. The condition is caused by genetic mutations, similar to the BRCA gene mutations that increase the risk of breast cancer. People with Lynch syndrome face a 50 percent risk of developing womb cancer in their lifetime, compared to just a three percent risk in the general population.

NICE (National Institute for Health and Care Excellence) recommends that all patients diagnosed with womb or bowel cancer have their tumors tested for markers of Lynch syndrome. If markers are present, patients should receive genetic counseling and undergo further testing, including a blood test, to confirm the diagnosis.

Study details and findings

The study, which examined over 2,500 cases of womb cancer from the UK and Ireland between 2022 and 2023, found that while 91 percent of tumors were tested for Lynch syndrome markers, the results were not routinely shared with the wider medical team. This resulted in missed opportunities for follow-up genetic counseling and blood tests. Despite two-thirds of eligible patients being referred for counseling, many faced long wait times, leading to high dropout rates. As a result, only 48 percent of eligible womb cancer patients ultimately received the necessary blood tests.

The impact of undetected Lynch syndrome

The gaps in testing for Lynch syndrome put many patients at risk of developing additional cancers, such as bowel cancer, and leave their family members unaware of their own increased cancer risk. Early detection of Lynch syndrome allows for preventive measures, including regular colonoscopies and the use of aspirin to lower the risk of bowel cancer, or hysterectomies to prevent womb cancer.

Addressing the problem

Dr. Neil Ryan, clinical lecturer at the University of Edinburgh's Centre for Reproductive Health, emphasized the need for timely referral and testing to ensure that women with Lynch syndrome can benefit from preventive measures. While tumor testing rates are high, there is a clear gap in ensuring that these results lead to a diagnosis and appropriate action, which is crucial not only for the patients but also for their families.

The study was conducted by the UK Audit and Research Collaborative in Obstetrics and Gynecology (UK ARCOG), a trainee-led organization that aims to improve the quality and safety of patient care in obstetrics and gynecology.

Reference: Ryan N, Lennie KA, Naskretski A, et al. Mismatch in testing: a retrospective analysis of mismatch repair testing in endometrial cancer and Lynch syndrome diagnosis in multiple specialist centres in the UK and Ireland (March 2022–March 2023). BMJ Oncology. 2025. doi: 10.1136/bmjonc-2024-000688

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