Overview

• A BMJ Oncology study of 2,500 womb cancer cases across the UK and Ireland between 2022 and 2023 found that 91% of tumours were screened for Lynch syndrome markers but results were not routinely shared with clinical teams.
• Only 64% of patients eligible for genetic counselling were referred, and just 48% completed confirmatory blood tests due to prolonged waiting times and high dropout rates.
• NHS guidelines require that marker-positive tumour assessments prompt genetic testing referrals to confirm diagnosis and guide patient care.
• Undetected Lynch syndrome cases leave women unable to access preventive strategies such as aspirin therapy, regular colonoscopies or risk-reducing surgery.
• Dr Neil Ryan warned that tumour testing is only cost-effective when it leads to definitive diagnosis and urged that genetic testing be fully integrated into routine care.