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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Geurts‐Giele, Willemina R., Rosenberg, Efraim H., van Rens, Anja, van Leerdam, Monique E., Dinjens, Winand N., Bleeker, Fonnet E.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Clinical Reports
Acesso em linha: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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