Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome

Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome

Abstract Background Lynch syndrome (LS) is caused by germline mismatch repair (MMR) gene mutations. De novo MMR gene mutations are rare, and somatic mosaicism in LS is thought to be infrequent. We describe the first case of somatic mosaicism by a de novo MLH1 mutation for a patient diagnosed with a...

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Bibliographic Details
Main Authors: Willemina R. Geurts‐Giele, Efraim H. Rosenberg, Anja van Rens, Monique E. van Leerdam, Winand N. Dinjens, Fonnet E. Bleeker
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Lynch syndrome
MLH1
mosaicism
Online Access:https://doi.org/10.1002/mgg3.699

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