This is not Lynch syndrome: lessons from misattributed diagnoses in constitutional mismatch repair deficiency

This is not Lynch syndrome: lessons from misattributed diagnoses in constitutional mismatch repair deficiency

Background: Underdiagnosis of constitutional mismatch repair deficiency (CMMRD) syndrome leads to suboptimal cancer surveillance and management of CMMRD patients. Assessing pitfalls that led to the misdiagnosis of CMMRD is important to improve care trajectories, and to highlight the importance of ac...

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Bibliographic Details
Main Authors: A.H. Mohammad, E. Rohr, A. Moise, R.M. Abdulsalam, W. Davalan, A. Rizzolo, A.S. Liberman, C. Goudie, L. Palma, W.D. Foulkes
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:ESMO Gastrointestinal Oncology
Subjects:
DNA mismatch repair
constitutional mismatch repair deficiency syndrome
Lynch syndrome
misdiagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2949819824000724
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