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A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?

Familial cancer - 3 May 2025

Lucas Morghan C, Keßler Thomas, Scharf Florentine, Steinke-Lange Verena, Klink Barbara, Laner Andreas, Holinski-Feder Elke

Abstract excerpt

Interpreting variants of uncertain significance (VUS) in mismatch repair (MMR) genes remains a major challenge in managing Lynch syndrome and other hereditary cancer syndromes. This review outlines recommended VUS classification procedures, encompassing foundational and specialized methodologies tailored for MMR genes by expert organizations, including InSiGHT and ClinGen's Hereditary Colorectal Cancer/Polyposis...

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PMID: 40317406
DOI: 10.1007/s10689-025-00470-y

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