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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-11

AUTHORS

Sock Hoai Chan, Weng Khong Lim, Scott T Michalski, Jing Quan Lim, Nur Diana Binte Ishak, Marie Met-Domestici, Cedric Ng Chuan Young, Karen Vikstrom, Edward D Esplin, Jennifer Fulbright, Mei Kim Ang, Joseph Wee, Kesavan Sittampalam, Mohamad Farid, Stephen E Lincoln, Koji Itahana, Syafiq Abdullah, Bin Tean Teh, Joanne Ngeow

ABSTRACT

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 of the CDKN2A-encoded tumour suppressors p14ARF and p16INK4A with concomitant decrease in p21 and faster cell proliferation, implying potential deregulation of p53-mediated cell cycle control. Review of 13 additional patients with pathogenic CDKN2A variants suggested associations of germline CDKN2A mutations with an expanded spectrum of non-melanoma familial cancers. To our knowledge, this is the first report of a germline gross deletion of the CDKN2A-CDKN2B locus in an LFS family. These findings highlight the potential contribution of germline CDKN2A deletions to cancer predisposition and the importance of interrogating the full extent of CDKN2A locus in clinical testing gene panels. More... »

PAGES

16015

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/npjgenmed.2016.15

DOI

http://dx.doi.org/10.1038/npjgenmed.2016.15

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1048750668

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29263814


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294 https://www.grid.ac/institutes/grid.428397.3 schema:alternateName Duke NUS Graduate Medical School
295 schema:name Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.
296 Cancer and Stem Cell Biology Program, Duke-NUS Graduate Medical School Singapore, Singapore, Singapore.
297 Laboratory of Cancer Epigenome, Division of Medical Sciences, National Cancer Centre Singapore, Singapore, Singapore.
298 Oncology Academic Clinical Program, Duke-NUS Graduate Medical School, Singapore, Singapore.
299 rdf:type schema:Organization
300 https://www.grid.ac/institutes/grid.465210.4 schema:alternateName Invitae (United States)
301 schema:name Invitae, San Francisco, CA, USA.
302 rdf:type schema:Organization
 




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