CDK12 inactivation across solid tumors: an actionable genetic subtype.

TitleCDK12 inactivation across solid tumors: an actionable genetic subtype.
Publication TypeJournal Article
Year of Publication2019
AuthorsMarshall CH, Imada EL, Tang Z, Marchionni L, Antonarakis ES
JournalOncoscience
Volume6
Issue5-6
Pagination312-316
Date Published2019 May
ISSN2331-4737
Abstract

Inactivating alterations have been reported in ovarian and prostate cancers and may have therapeutic implications; however, the prevalence of these mutations across other cancer types is unknown. We searched the cBioPortal and GENIE Project (public release v4.1) databases for cancer types with > 200 sequenced cases, that included patients with metastatic disease, and in which the occurrence of at least monoallelic alterations was > 1%. The prevalence of at least monoallelic mutations was highest in bladder cancer (3.7%); followed by prostate (3.4%), esophago-gastric (2.1%) and uterine cancers (2.1%). Biallelic inactivation was highest in prostate cancer (1.8%), followed by ovarian (1.0%) and bladder cancers (0.5%). These results are the first (to our knowledge) to estimate the prevalence of monoallelic and biallelic mutations across multiple cancer types encompassing over 15,000 cases.

DOI10.18632/oncoscience.481
Alternate JournalOncoscience
PubMed ID31360735
PubMed Central IDPMC6650168
Grant ListP30 CA006973 / CA / NCI NIH HHS / United States
R01 CA185297 / CA / NCI NIH HHS / United States
R01 CA200859 / CA / NCI NIH HHS / United States
Related Faculty: 
Luigi Marchionni, M.D., Ph.D.

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