From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene

BACKGROUND: The MLH1 gene is one of the DNA mismatch repair genes (MMR), implicated in Lynch syndrome (LS), an autosomal dominant hereditary tumor susceptibility disease. The advent of next‐generation sequencing (NGS) technologies has accelerated the diagnosis of inherited diseases and increased the...

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Detalles Bibliográficos
Autores principales: Bouras, Ahmed, Legrand, Clementine, Kourda, Jihen, Ruano, Eric, Grand‐Masson, Chloé, Lefol, Cedrick, Wang, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496038/
https://www.ncbi.nlm.nih.gov/pubmed/37350751
http://dx.doi.org/10.1002/mgg3.2231

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496038/
https://www.ncbi.nlm.nih.gov/pubmed/37350751
http://dx.doi.org/10.1002/mgg3.2231

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