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Last Posted: Nov 30, 2023
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The English National Lynch Syndrome Transformation Project
Brit Soc Gastro, July 14, 2023

Lynch syndrome (LS) affects approximately 1 in 400 individuals and predisposes to multiple cancers including colorectal, endometrial, gastric, small bowel, cholangiocarinoma and other tumors. Although a common condition, it is estimated that only 5% of patients with LS are known in the UK. There is consistent evidence of the cost-effectiveness and clinical benefit of a structured diagnostic pathway in patients with LS following a diagnosis of cancer linked to cascade testing in families. NICE DG27 and DG42 guidelines recommend universal testing of newly diagnosed colorectal and endometrial cancer for Lynch syndrome (LS), however there is strong evidence of variation in delivery of these guidelines by clinical services.

Relevance of Molecular Profiling in Patients With Low-Grade Endometrial Cancer.
Vrede Stephanie W et al. JAMA network open 2022 12 (12) e2247372

Is tumor molecular profile associated with outcomes among patients with low-grade endometrial cancer? In this retrospective multicenter cohort study of 393 patients, outcomes for patients with low-grade endometrial cancer were not associated with molecular subgroup. These findings do not support routine molecular profiling in patients with low-grade endometrial cancer.

Integration of Molecular Data in the Prognostic Stratification and Management of Endometrial Carcinoma
A Raffone et al, J Per Med, December 18, 2022

In the last years, the TCGA-based molecular classifier have been progressively integrated in the management of endometrial carcinoma. While molecular assays are increasingly available across pathology laboratories, the additional costs will expectedly be compensated by a reduction in overtreatments and a prevention of recurrences. The additional time might be shortened by assessing molecular markers on biopsy specimens.

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