The MSH2 c.793-1G>A variant disrupts normal splicing and is associated with Lynch syndrome

INSTRUCTION: Lynch syndrome (LS) is the most common inherited cancer predisposition disorder of colorectal cancer (CRC) which is associated with pathogenic variants in 4 mismatch repair (MMR) genes. Here, we reported a multi-generation Chinese family clinically diagnosed with LS. METHODS: To identif...

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Detalles Bibliográficos
Autores principales: Li, Yiming, Yu, Lulu, Cui, Jiajia, Yin, Jiye, Wu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10395827/
https://www.ncbi.nlm.nih.gov/pubmed/37538120
http://dx.doi.org/10.3389/fonc.2023.1131011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10395827/
https://www.ncbi.nlm.nih.gov/pubmed/37538120
http://dx.doi.org/10.3389/fonc.2023.1131011

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