Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genes

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Caburet , S , Anttonen , M , Todeschini , A-L , Unkila-Kallio , L , Mestivier , D , Butzow , R & Veitia , R A 2015 , ' Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genes ' , BMC Cancer , vol. 15 , 251 . https://doi.org/10.1186/s12885-015-1283-0

Title: Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genes
Author: Caburet, Sandrine; Anttonen, Mikko; Todeschini, Anne-Laure; Unkila-Kallio, Leila; Mestivier, Denis; Butzow, Ralf; Veitia, Reiner A.
Contributor: University of Helsinki, Department of Obstetrics and Gynecology
University of Helsinki, Clinicum
University of Helsinki, Department of Pathology
Date: 2015-04-10
Language: eng
Number of pages: 11
Belongs to series: BMC Cancer
ISSN: 1471-2407
URI: http://hdl.handle.net/10138/164046
Abstract: Background: Ovarian granulosa cell tumors (GCTs) are the most frequent sex cord-stromal tumors. Several studies have shown that a somatic mutation leading to a C134W substitution in the transcription factor FOXL2 appears in more than 95% of adult-type GCTs. Its pervasive presence suggests that FOXL2 is the main cancer driver gene. However, other mutations and genomic changes might also contribute to tumor formation and/or progression. Methods: We have performed a combined comparative genomic hybridization and transcriptomic analyses of 10 adult-type GCTs to obtain a picture of the genomic landscape of this cancer type and to identify new candidate co-driver genes. Results: Our results, along with a review of previous molecular studies, show the existence of highly recurrent chromosomal imbalances (especially, trisomy 14 and monosomy 22) and preferential co-occurrences (i.e. trisomy 14/monosomy 22 and trisomy 7/monosomy 16q). In-depth analyses showed the presence of recurrently broken, amplified/duplicated or deleted genes. Many of these genes, such as AKT1, RUNX1 and LIMA1, are known to be involved in cancer and related processes. Further genomic explorations suggest that they are functionally related. Conclusions: Our combined analysis identifies potential candidate genes, whose alterations might contribute to adult-type GCT formation/progression together with the recurrent FOXL2 somatic mutation.
Subject: Ovarian granulosa cell tumor
Driver genes
CGH
Transcriptomics
EPITHELIAL PROTEIN LOST
AAA-ATPASE NVL2
BREAST-CANCER
DOWN-REGULATION
FOXL2 MUTATION
DNA-DAMAGE
IN-VITRO
EXPRESSION
EPLIN
PROGRESSION
3123 Gynaecology and paediatrics
3122 Cancers
3111 Biomedicine
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