Germline hemizygous deletion of CDKN2A–CDKN2B locus in a patient presenting with Li–Fraumeni syndrome

Li–Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome usually associated with TP53 germline alterations. Its genetic basis in TP53 wild-type pedigrees is less understood. Using whole-genome sequencing, we identified a germline hemizygous deletion ablating CDKN2A–CDKN2B in a TP53 wild-t...

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Detalhes bibliográficos
Publicado no:NPJ Genom Med
Main Authors: Chan, Sock Hoai, Lim, Weng Khong, Michalski, Scott T, Lim, Jing Quan, Ishak, Nur Diana Binte, Met-Domestici, Marie, Young, Cedric Ng Chuan, Vikstrom, Karen, Esplin, Edward D, Fulbright, Jennifer, Ang, Mei Kim, Wee, Joseph, Sittampalam, Kesavan, Farid, Mohamad, Lincoln, Stephen E, Itahana, Koji, Abdullah, Syafiq, Teh, Bin Tean, Ngeow, Joanne
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5685299/
https://ncbi.nlm.nih.gov/pubmed/29263814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/npjgenmed.2016.15
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