Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/107352
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Type: Journal article
Title: Genetics and genomics of ovarian sex cord-stromal tumors
Author: Fuller, P.J.
Leung, D.
Chu, S.
Citation: Clinical Genetics: an international journal of genetics and molecular medicine, 2017; 91(2):285-291
Publisher: Wiley-Blackwell
Issue Date: 2017
ISSN: 0009-9163
1399-0004
Statement of
Responsibility: 
P.J. Fuller, D. Leung and S. Chu
Abstract: Ovarian sex cord-stromal tumors (SCST) represent approximately 8% of malignant ovarian tumors. The most common are granulosa cell tumors (GCT) which account for approximately 90% of malignant SCST. Recent studies have unraveled the key genomic and genetic events contributing to their pathogenesis. SCST are found in the hereditary syndromes: Peutz-Jeghers syndrome, Ollier disease and Maffucci syndrome, and DICER1 syndrome. Genomic studies have largely been limited to GCT where a number of recurring chromosomal abnormalities (monsomy and trisomy) have been identified although their contribution to pathogenesis remains unclear. In addition to the recurrent DICER1 mutations reported in non-hereditary cases of Sertoli cell and Sertoli-Leydig cell tumors, recurrent somatic mutations in both the juvenile (j) and adult (a) forms of GCT have been reported. Approximately 30% of jGCT contain a somatic mutation, the gsp oncogene, while a further 60% have an activating mutation in the AKT gene. In the case of aGCT, a well characterized mutation in the FOXL2 transcription factor (FOXL2 C134W) is found in almost all cases, which arguably defines the disease, although the molecular events that determine the stage, behavior and prognosis of aGCT remain to be determined.
Keywords: FOXL2
granulosa cells
ovarian cancer
ovary
stromal tumors
Rights: © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
DOI: 10.1111/cge.12917
Grant ID: http://purl.org/au-research/grants/nhmrc/1058334
http://purl.org/au-research/grants/nhmrc/1002559
Published version: http://dx.doi.org/10.1111/cge.12917
Appears in Collections:Aurora harvest 8
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