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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Publicado en:Mol Genet Genomic Med
Autores principales: Geurts‐Giele, Willemina R., Rosenberg, Efraim H., van Rens, Anja, van Leerdam, Monique E., Dinjens, Winand N., Bleeker, Fonnet E.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea: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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