Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li–Fraumeni-like family

BACKGROUND: Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like (LFL) syndrome are rare hereditary diseases characterized by predisposition to a diverse spectrum of cancer types, primarily sarcoma. The pathogenic variants underlying the majority of LFL cases remain to be explored. METHODS: We performed...

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Detalles Bibliográficos
Autores principales: Li, Yuping, Xie, Yupeng, Wang, Di, Xu, Hanyan, Ye, Junru, Yin, Jiani C., Chen, Junjie, Yan, Junrong, Ye, Bin, Chen, Chengshui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664187/
https://www.ncbi.nlm.nih.gov/pubmed/36387164
http://dx.doi.org/10.3389/fonc.2022.963364

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