Abstract
Author SummarySerous ovarian cancer, the most common form of ovarian cancer, is especially lethal because it is usually only detected at a late stage in its progression, after the cancer has spread to other tissues. We searched for molecular markers of this cancer that might provide a better way to detect tumors at a curable stage and that might provide targets for new treatments. Chromosomal rearrangements that fuse two genes to produce a recombinant gene that enhances growth or spread of the cancer are particularly specific biomarkers and have been found in many cancers. By “deep” sequencing of the RNA molecules that carry genetic information in serous ovarian cancers, we discovered a rearrangement that fuses the same two neighboring genes in at least 15% of these tumors. The two fused genes are ESRRA, which encodes a key regulator of gene expression, and an essentially uncharacterized gene, C11orf20, that is normally adjacent to the ESRRA gene. Chromosomal rearrangements that recombine parts of two nearby genes or even parts of a single gene may be a common, important feature of the cancer genome that eludes detection by most approaches to characterizing cancer genomes.
Highlights
Ovarian cancer is estimated to kill more than 140,000 women every year [1]
C11orf20 We evaluated the prevalence of the ESRRA-C11orf20 fusion in a set of 68 patients with serous ovarian cancer, by RT-PCR followed by Sanger sequencing
In an RT-PCR/Sanger sequencing survey of serous ovarian cancers at two different institutions, we confirmed ESRRA-C11orf20 fusion transcripts in 10 of the 67 tumors, or 15% (95% confidence interval: 7% to 26%), suggesting that this fusion is present in a significant fraction of serous ovarian cancers
Summary
Ovarian cancer has a dismal prognosis once the disease has spread beyond the site of origin [2]. The histological subtypes of ovarian cancer differ substantially in their molecular features and natural history and can be considered distinct diseases. Ovarian carcinomas of the serous histological type are responsible for the majority of deaths from ovarian cancer; they typically progress to an advanced stage while the tumor is still much too small to be detected by any presently available screening method [3]. Discovery of truly tumor-specific molecular markers may be essential for effective early detection of these tumors. Recurrent gene fusions are among the most tumor-specific molecular markers known. Investigations of oncogenic gene fusions, including BCR-ABL in chronic myelogenous leukemia, have provided critical insights into pathogenesis and led to important therapeutic advances [4]
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