Ontology type: schema:ScholarlyArticle Open Access: True
2016-11
AUTHORSSock 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
ABSTRACTLi-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... »
PAGES16015
http://scigraph.springernature.com/pub.10.1038/npjgenmed.2016.15
DOIhttp://dx.doi.org/10.1038/npjgenmed.2016.15
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]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/npjgenmed.2016.15'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/npjgenmed.2016.15'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/npjgenmed.2016.15'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/npjgenmed.2016.15'
This table displays all metadata directly associated to this object as RDF triples.
302 TRIPLES
21 PREDICATES
56 URIs
21 LITERALS
9 BLANK NODES