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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 ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1172/jci.insight.92061

Authors


More from this funder
Name:
Wellcome Trust
Grant:
Investigator
More from this funder
Name:
Medical Research Council
Grant:
G1000467
More from this funder
Name:
European Regional Development Fund
More from this funder
Name:
Portuguese Ministry of Education and Science
More from this funder
Name:
Portuguese Foundation for Science and Technology
Publisher:
American Society for Clinical Investigation
Journal:
JCI Insight More from this journal
Volume:
2
Issue:
6
Pages:
e92061
Publication date:
2017-03-01
Acceptance date:
2017-02-01
DOI:
ISSN:
2379-3708
Language:
English
Keywords:
Pubs id:
pubs:688873
UUID:
uuid:6962ccc4-f0e8-485e-b371-8650f471b933
Local pid:
pubs:688873
Source identifiers:
688873
Deposit date:
2017-08-04

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