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

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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Bibliographic Details
Main Authors: Antonio Nolano, Giovanni Battista Rossi, Valentina D’Angelo, Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:International Journal of Molecular Sciences
Subjects:
ATM gene
Lynch syndrome
MMR genes
uncertain significance variants
synergist effect of risk alleles
Online Access:https://www.mdpi.com/1422-0067/24/6/5970

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