title: Hereditary and sporadic ovarian cancer: genetic testing and clinical implications (review).
abstract: The two most common forms of hereditary ovarian cancer are: the breast ovarian cancer syndrome, and ovarian cancer associated with HNPCC (hereditary nonpolyposis colorectal cancer) syndrome. Studies have shown that these diseases may be associated with mutations in a number of tumor suppressor genes, mainly BRCA1 and BRCA2. Malfunction of the protein products of these genes have also been found to be involved in sporadic ovarian cancer, which makes up the majority of ovarian cancer cases. HNPCC-ovarian cancer associated families reveal frequent mutations in at least four genes (hMSH2, hMLH1, hPMS1, and hPMS2) involved in the repair of mismatched DNA. With ovarian cancer being such an important 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 family histories of the disease who are at increased risk. The ramifications of such research may impact a variety of scientific, clinical, legal, 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 whether the technology can be made reliable enough to not only benefit high-risk individuals but also the general population.
authors.affiliation: Division of Gynecologic Oncology (D-52), Jackson Memorial Hospital, University of Miami School of Medicine, 1611 N.W. 12th Ave., ET 7007, Miami, FL 33136, USA.
authors.forename: R
authors.initials: R
authors.lastname: Angioli
authors.forename: R
authors.initials: R
authors.lastname: Estape
authors.forename: M
authors.initials: M
authors.lastname: Mason
authors.forename: M
authors.initials: M
authors.lastname: Penalver
mesh_terms: D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004260:DNA Repair; D005260:Female; D019398:Genes, BRCA1; D016147:Genes, Tumor Suppressor; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors