More testing needed for genetic cancer risk as too many women ‘missed’, experts say

A new study has revealed that families of some cancer patients are being denied the opportunity to learn about their potential cancer risk due to inconsistencies in genetic testing.

Academics have warned that the absence of adequate testing for Lynch syndrome is leaving some cancer patients unaware of their risk of developing other cancers.

Lynch syndrome, a rare hereditary condition, elevates the risk of cancers of the bowel, womb, and ovaries. It arises from a gene mutation affecting DNA error correction during replication, potentially leading to uncontrolled cell growth.

NHS guidelines stipulate that patients with bowel or womb cancer should undergo tumour assessments for Lynch syndrome markers.

The identification of these markers should prompt a referral for genetic testing, confirming the diagnosis and enabling access to support and guidance regarding cancer risks for both the patients and their families.

However, a new study by academics at the University of Edinburgh found not all womb cancer patients are being sent for genetic testing.

Researchers said those who were referred faced long waits, resulting in high dropout rates, meaning only 48 per cent of those eligible went on to get the test.

Experts from the university said gaps in testing mean some womb cancer patients with Lynch syndrome go undetected.

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Source: The Independent, 10 June 2025