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Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study

Authors: Lucy Loong,Catherine Huntley,Joanna Pethick,Fiona McRonald,Francesco Santaniello,Brian Shand,Oliver Tulloch,Shilpi Goel,Margreet Lüchtenborg,Sophie Allen,Bethany Torr,Katie Snape,Angela George,Fiona Lalloo,Gail Norbury,Diana M Eccles,Marc Tischkowitz,Antonis C Antoniou,Paul Pharoah,Adam Shaw,Eva Morris,John Burn,Kevin Monahan,Steven Hardy,Clare Turnbull
Publisher: BMJ
Publish date: 2024-10-21
ISSN: 0022-2593,1468-6244 DOI: 10.1136/jmg-2024-110231
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The article investigates Lynch syndrome (LS) diagnostic pathways in endometrial cancer across England, highlighting significant regional disparities, delays, and high attrition rates in testing. While the study establishes a baseline for evaluating the impact of the 2020 NICE guidelines, only 17.8% of patients received functional mismatch repair (MMR) testing, with fewer completing subsequent steps. Given the missing germline MMR testing records, could the authors clarify how this limitation might affect their conclusions? Additionally, could they elaborate on the systemic factors driving regional disparities and consider visual enhancements, such as a summarized flowchart of the testing attrition, to improve clarity?

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