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Germline Variants in MLH1 and ATM Genes in a Young Patient with MSI-H in a Precancerous Colonic Lesion

Lynch syndrome (LS) is an autosomal dominant inherited disorder that primarily predisposes individuals to colorectal and endometrial cancer. It is associated with pathogenic variants in DNA mismatch repair (MMR) genes. In this study, we report the case of a 16-year-old boy who developed a precancero...

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Detalles Bibliográficos
Autores principales: Nolano, Antonio, Rossi, Giovanni Battista, D’Angelo, Valentina, Liccardo, Raffaella, Rosa, Marina De, Izzo, Paola, Duraturo, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10051096/
https://www.ncbi.nlm.nih.gov/pubmed/36983044
http://dx.doi.org/10.3390/ijms24065970