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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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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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