Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Frequency of mutations and polymorphisms in borderline ovarian tumors of known cancer genes
Modern Pathology, Volume 26, No. 4, Year 2013
Notification
URL copied to clipboard!
Description
Borderline ovarian tumors represent an understudied subset of ovarian tumors. Most studies investigating aberrations in borderline tumors have focused on KRAS/BRAF mutations. In this study, we conducted an extensive analysis of mutations and single-nucleotide polymorphisms (SNPs) in borderline ovarian tumors. Using the Sequenom MassArray platform, we investigated 160 mutations/polymorphisms in 33 genes involved in cell signaling, apoptosis, angiogenesis, cell cycle regulation and cellular senescence. Of 52 tumors analyzed, 33 were serous, 18 mucinous and 1 endometrioid. KRAS c.35G>A p.Gly12Asp mutations were detected in eight tumors (six serous and two mucinous), BRAF V600E mutations in two serous tumors, and PIK3CA H1047Y and PIK3CA E542K mutations in a serous and an endometrioid BOT, respectively. CTNNB1 mutation was detected in a serous tumor. Potentially functional polymorphisms were found in vascular endothelial growth factor (VEGF), ABCB1, FGFR2 and PHLPP2. VEGF polymorphisms were the most common and detected at four loci. PHLPP2 polymorphisms were more frequent in mucinous as compared with serous tumors (P=0.04), with allelic imbalance in one case. This study represents the largest and most comprehensive analysis of mutations and functional SNPs in borderline ovarian tumors to date. At least 25% of borderline ovarian tumors harbor somatic mutations associated with potential response to targeted therapeutics. © 2013 USCAP, Inc. All rights reserved.
Authors & Co-Authors
Stemke-Hale, Katherine Stemke
United States, Houston
The University of Texas Md Anderson Cancer Center
Shipman, Kristy L.
United Kingdom, London
Hammersmith Hospital
Kitsou-Mylona, Isidora
United Kingdom, London
Hammersmith Hospital
Gonzalez De Castro, David Rodríguez
United Kingdom, London
The Royal Marsden Nhs Foundation Trust
Hird, Victoria
United Kingdom, London
Queen Charlotte's and Chelsea Hospital
Brown, Robert
United Kingdom, London
Hammersmith Hospital
Flanagan, James M.
United Kingdom, London
Hammersmith Hospital
Gabra, H.
United Kingdom, London
Hammersmith Hospital
Mills, Gordon B.
United States, Houston
The University of Texas Md Anderson Cancer Center
Agarwal, Roshan
United Kingdom, London
Hammersmith Hospital
El-Bahrawy, Mona A.
United Kingdom, London
Hammersmith Hospital
Egypt, Alexandria
Faculty of Medicine
Statistics
Citations: 14
Authors: 11
Affiliations: 5
Identifiers
Doi:
10.1038/modpathol.2012.194
ISSN:
08933952
e-ISSN:
15300285
Research Areas
Cancer