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Universal molecular screening does not effectively detect Lynch syndrome in clinical practice

Brennan, Beatrice; Hemmings, Chris; Clark, Ian; Yip, Desmond; Fadia, Mitali; Taupin, Douglas


Background: Lynch syndrome (LS) due to an inherited damaging mutation in mismatch repair (MMR) genes comprises 3% of all incident colorectal cancer (CRC). Molecular testing using immunohistochemistry (IHC) for MMR proteins is a recommended screening tool to identify LS in incident CRC. This study assessed outcomes of population-based routine molecular screening for diagnosis of LS in a regional center. Methods: We conducted a prospective, consecutive case series study of universal IHC testing...[Show more]

CollectionsANU Research Publications
Date published: 2017
Type: Journal article
Source: Therapeutic Advances in Gastroenterology
DOI: 10.1177/1756283X17690990
Access Rights: Open Access


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