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

@inproceedings{Chan2016GermlineHD,
  title={Germline hemizygous deletion of CDKN2A–CDKN2B locus in a patient presenting with Li–Fraumeni syndrome},
  author={Sock Hoai Chan and Weng Khong Lim and Scott T. Michalski and Jing Quan Lim and Nur Diana Binte Ishak and Marie Met-Domestici and Cedric Ng Chuan Young and Karen Vikstrom and Edward D Esplin and Jennifer L. Fulbright and Mei Kim Ang and Joseph Tien Seng Wee and Kesavan SO Sittampalam and Mohamad B H R Farid and Stephen E. Lincoln and Koji Itahana and Syafiq Abdullah and Bin Tean Teh and Joanne Ngeow},
  booktitle={npj Genomic Medicine},
  year={2016}
}
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-type patient presenting with high-grade sarcoma, laryngeal squamous cell carcinoma and a family history suggestive of LFS. Patient-derived cells demonstrated reduced basal gene and protein expression… CONTINUE READING