Lynch Syndrome Testing in Endometrial Cancer
Author Information
Author(s): Loong Lucy, Huntley Catherine, Pethick Joanna, McRonald Fiona, Santaniello Francesco, Shand Brian, Tulloch Oliver, Goel Shilpi, Lüchtenborg Margreet, Allen Sophie, Torr Bethany, Snape Katie, George Angela, Lalloo Fiona, Norbury Gail, Eccles Diana M, Tischkowitz Marc, Antoniou Antonis C, Pharoah Paul, Shaw Adam, Morris Eva, Burn John, Monahan Kevin, Hardy Steven, Turnbull Clare
Primary Institution: Institute of Cancer Research Division of Genetics and Epidemiology, Sutton, UK
Hypothesis
What is the effectiveness of the diagnostic testing pathway for Lynch syndrome in patients with endometrial cancer?
Conclusion
The study reveals significant regional variation and delays in testing for Lynch syndrome in endometrial cancer patients, highlighting missed opportunities for diagnosis.
Supporting Evidence
- 17.8% of patients diagnosed with endometrial cancer in 2019 received functional MMR tumour testing.
- Only 25% of patients eligible for germline MMR testing were recorded as having received it.
- The median time from cancer diagnosis to germline MMR test was 315 days.
Takeaway
This study shows that many women with a certain type of cancer didn't get tested for a genetic condition that could help them and their families, and it took a long time to get the tests done.
Methodology
A retrospective national population-based observational study using data from the English National Cancer Registration Dataset.
Potential Biases
Potential biases may arise from regional variations in testing practices and the exclusion of patients known to clinical genetics prior to diagnosis.
Limitations
The study relies on the completeness of local data submissions and may underestimate the proportion of patients who received germline tests due to missing records.
Participant Demographics
The median age of endometrial cancer diagnosis was 68 years, with variations in testing rates by age and Cancer Alliance.
Statistical Information
P-Value
0.0038
Statistical Significance
p<0.0001
Digital Object Identifier (DOI)
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