The use of cytogenetics in understanding ovarian cancer

The future of cancer research is no longer limited to epidemiological data and clinical management, but rather encompasses a new dimension of understanding, that involves genetics of the tumors themselves. This has been exemplified most prominently in hematological tumors where alterations at the DNA level have been found to play key roles in the pathophysiology, diagnosis, monitoring and prognosis of these tumors. It has been shown over the last 20 years that recurrent chromosomal rearrangements are strongly associated with the activation of oncogenes, acquisition of drug resistance and loss of tumor suppressor gene function. Chromosomal alterations have also been shown to characterize many solid tumors, including epithelial ovarian cancer [Cancer Res. 62 (2002) 3466; Cancer 91 (2001) 534; Genes Chromosomes Cancer 25 (1999) 290]. Despite these findings, however, there are currently few examples of specific cytogenetic studies that have contributed to the clinical management of solid tumors such as ovarian cancer. The limiting factor to date is the resolution of available techniques. With time, as the technology improves, so will our ability to focus on specific findings that may be applicable to future clinical management. The intention of this report is to familiarize the reader with the evolution of cytogenetic and molecular cytogenetic techniques used in the study of ovarian cancer, the early formulations from these studies and their use in answering specific clinical questions such as association with pathologic subtype, the relevance of drug resistance, the impact of BRCA mutations, and finally to guide the reader into the future of this ever growing field.