HEREDITARY AND SPORADIC OVARIAN-CANCER - GENETIC TESTING AND CLINICALIMPLICATIONS (REVIEW)

The two most common forms of hereditary ovarian cancer are: the breast ovarian cancer syndrome, and ovarian cancer associated with HNPCC (he reditary nonpolyposis colorectal cancer) syndrome. Studies have shown that these diseases may be associated with mutations in a number of tu mor suppressor genes, mainly BRCA1 and BRCA2. Malfunction of the prote in products of these genes have also been found to be involved in spor adic ovarian cancer, which makes up the majority of ovarian cancer cas es. HNPCC-ovarian cancer associated families reveal frequent mutations in at least four genes (hMSH2, hMLH1, hPMS1, and hPMS2) involved in t he repair of mismatched DNA. With ovarian cancer being such an importa nt health issue, the push is on to design reliable screening tests to detect defective inherited or somatic alleles in individual carriers. So far, most progress has been demonstrated in those patients with fam ily histories of the disease who are at increased risk. The ramificati ons of such research may impact a variety of scientific, clinical, leg al, ethical, and psychosocial issues. In addition to current treatment modalities, positive results of these tests may indicate the need for increased clinical surveillance, prophylactic treatment, and genetic counseling of patients on an individual basis. It remains to be seen w hether the technology can be made reliable enough to not only benefit high-risk individuals but also the general population.