Whole exome sequence analysis of serous borderline tumors of the ovary

Boyd, J., Luo, B., Peri, S., Wirchansky, B., Hughes, L., Forsythe, C., Wu, H. (2013) Whole exome sequence analysis of serous borderline tumors of the ovary. Gynecologic Oncology, 130 (3). pp. 560-564. ISSN 00908258

URL: https://www.ncbi.nlm.nih.gov/pubmed/23774303
DOI: 10.1016/j.ygyno.2013.06.007


Objective Serous borderline tumor (SBT) is a unique histopathologic entity of the ovary, believed to be intermediate between benign cystadenoma and invasive low-grade serous carcinoma. While somatic mutations in the KRAS or BRAF, and rarely ERBB2, genes have been well characterized in SBTs, other genetic alterations have not been described. Toward a more comprehensive understanding of the molecular genetic architecture of SBTs, we undertook whole exome sequencing of this tumor type. Methods Following pathologic review and laser capture microdissection to enrich for tumor cells, whole exomes were prepared from DNA of two independent SBTs and subjected to massively parallel DNA sequencing. Results Both tumors contained an activating mutation of the BRAF gene. A total of 15 additional somatic mutations were identified, nine in one tumor and six in the other. Eleven were missense mutations and four were nonsense or deletion mutations. Fourteen of the 16 genes found to be mutated in this study have been reported to be mutated in other cancers. Furthermore, 12 of these genes are mutated in ovarian cancers. The FBXW7 and KIAA1462 genes are noteworthy candidates for a pathogenic role in serous borderline tumorigenesis. Conclusions These findings suggest that a very small number of somatic genetic mutations are characteristic of SBTs of the ovary, thus supporting their classification as a relatively genetically stable tumor type. The mutant genes described herein represent novel candidates for the pathogenesis of ovarian SBT.

Item Type: Paper
Subjects: bioinformatics > genomics and proteomics > analysis and processing > Sequence Data Processing
diseases & disorders > cancer > cancer types > ovarian cancer
Investigative techniques and equipment > assays > whole genome sequencing
CSHL Authors:
Communities: CSHL labs > Boyd lab
Highlight: Boyd, Jeff
Depositing User: Adrian Gomez
Date: 2013
Date Deposited: 13 Mar 2020 19:01
Last Modified: 31 May 2020 18:45
PMCID: PMC4083840
Related URLs:
URI: https://repository.cshl.edu/id/eprint/39197

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