Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare PMS2 Splicing Variant (c.1144+1G>A)

Lynch syndrome (LS) is a cancer-predisposing genetic disease mediated by pathogenic mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. Accumulating evidence demonstrates that there is significant biological heterogeneity across MMR genes. Compared to MLH1 and MSH2, PMS2 variant...

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Detalles Bibliográficos
Autores principales: Han, Quanli, Liu, Si, Cui, Zhi, Wang, Qi, Ma, Tonghui, Jiang, Liwen, Li, Xiaomo, Dai, Guanghai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8804326/
https://www.ncbi.nlm.nih.gov/pubmed/35116055
http://dx.doi.org/10.3389/fgene.2021.799807

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