Novel MSH6 exon 5–6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management

Novel MSH6 exon 5–6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management

Abstract Lynch syndrome is an autosomal dominant disorder predisposing individuals to colorectal and other cancers, primarily caused by variants in mismatch repair genes. This study describes a novel MSH6 variant affecting transcript structure in a Taiwanese family meeting the Amsterdam II criteria...

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Bibliographic Details
Main Authors: Ting-Yao Wang, Chao-Yu Chen, Huei-Chieh Chuang, Yuan-Yuan Jiang, Jrhau Lung
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Molecular Cytogenetics
Subjects:
Lynch syndrome
MSH6 gene
Exon skipping
Small bowel cancer
Next-generation sequencing
Hereditary cancer
Online Access:https://doi.org/10.1186/s13039-025-00708-5
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https://doi.org/10.1186/s13039-025-00708-5

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