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

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 rectosig...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: Geurts‐Giele, Willemina R., Rosenberg, Efraim H., van Rens, Anja, van Leerdam, Monique E., Dinjens, Winand N., Bleeker, Fonnet E.
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2019
Sujets:
Clinical Reports
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625132/
https://ncbi.nlm.nih.gov/pubmed/31104363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.699
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