Ovarian Cancer FISH Probes
Approximately 10% of women with invasive epithelial ovarian cancer (EOC) harbor deleterious germline mutations in BRCA1 or BRCA1. BRCA1-related disease is more likely to be of serous histology, high grade, and advanced stage.
CCNE1 amplification is one of the most common genetic alterations found in ovarian cancer. Overexpression promote chromosomal mis-segregation, ramping up the mutational burden in other genes that control cell division and survival, generating a tumorigenic phenotype.
ERBB2 (HER2) overexpression, while not as high as found in breast cancer, is well documented in ovarian cancer. It’s been shown to vary from 8-66% in the literature, dependent on tumor grade and subtype.
HMGA2 encodes a member of the high‐mobility group AT‐hook (HMGA) family of nonhistone chromatin proteins. In ovarian cancer, HMGA2 overexpression is associated with p53-dominant mutations and let-7 downregulation.
KANSL1 is a master regular of immune response in ovarian tumors. By downregulating expression of several prognostically relevant genes, KANSL1 amplification inhibits immunoreactivity.
Genome-scale analyses point to PAX8 as a lineage-specific survival gene, highly expressed in ovarian cancer cell lines and amplified in a large fraction of primary ovarian tumors. Its overexpression leads to apoptosis resistance, tumor cell proliferation/migration, and repression of terminal differentiation.
WT1 was first identified as the gene responsible for Wilms’ Tumor, but its overexpression has since been documented in a few other neoplasms, including ovarian cancer. The gene aids tumor growth via its interaction with several different cell cycle accelerators and apoptosis inhibitors.
Studies on cell lines have indicated that ZNF217 promotes neoplastic progression of ovarian tumors by introducing 4 important malignancy‐associated characteristics: immortality, telomerase activity, reduced serum dependence and anchorage independence.