Journal article icon

Journal article

Genomic profiling reveals mutational landscape in parathyroid carcinomas.

Abstract:

Parathyroid carcinoma (PC) is an extremely rare malignancy lacking effective therapeutic intervention. We generated and analyzed whole-exome sequencing data from 17 patients to identify somatic and germline genetic alterations. A panel of selected genes was sequenced in a 7-tumor expansion cohort. We show that 47% (8 of 17) of the tumors harbor somatic mutations in the CDC73 tumor suppressor, with germline inactivating variants in 4 of the 8 patients. The PI3K/AKT/mTOR pathway was altered in ...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

Actions


Access Document


Files:
Publisher copy:
10.1172/jci.insight.92061

Authors


Uzilov, AV More by this author
Bellizzi, J More by this author
Expand authors...
University of Connecticut School of Medicine More from this funder
National Institute for Health Research More from this funder
Portuguese Foundation for Science and Technology More from this funder
Expand funders...
Publisher:
American Society for Clinical Investigation Publisher's website
Journal:
JCI Insight Journal website
Volume:
2
Issue:
6
Pages:
e92061
Publication date:
2017-03-17
Acceptance date:
2017-02-01
DOI:
ISSN:
2379-3708
Pubs id:
pubs:688873
URN:
uri:6962ccc4-f0e8-485e-b371-8650f471b933
UUID:
uuid:6962ccc4-f0e8-485e-b371-8650f471b933
Local pid:
pubs:688873
Language:
English
Keywords:

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP