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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685299/
https://www.ncbi.nlm.nih.gov/pubmed/29263814
http://dx.doi.org/10.1038/npjgenmed.2016.15

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685299/
https://www.ncbi.nlm.nih.gov/pubmed/29263814
http://dx.doi.org/10.1038/npjgenmed.2016.15

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