Accordingly, the study recommends that all Ashkenazi Jewish women with these gynecologic cancers undergo genetic testing to determine if these genetic markers are present. Finding the presence of BRCAl and BRCA2 mutations would differentiate between carriers and non-carriers, thereby providing immediate significance to a carrier's family members. Presenting their research results are Uziel Beller, MD, David Halle, PhD, Raphael Catane, MD, Bella Kaufman, MD, Gila Hornreich, MD, and Ephrat Levy-Lahad, MD, all from Shaare Zedek Medical Center, Jerusalem, Israel. Dr. Beller's recommendations could conceivably be implemented in Israel where its national health system covers genetic testing. In the United States, such testing is not generally covered by medical insurance programs making implementation of this new widespread screening technique impractical at this time.
Ovarian cancer is the most lethal of all gynecologic malignancies.
Unfortunately, it has no detectable pre-malignant stage and is therefore usually diagnosed only in advanced stages. While screening the general public has not been found to be effective, high-risk groups might benefit from such an intervention. A recent series of scientific research studies have examined protocols for identifying BRCAl and BRCA2 gene mutations found in high-risk populations indicating an inherited susceptibility to breast and ovarian cancers. Analysis of these genes has revealed more than 100 pathogenic mutations in each. The mutations are generally private, that is, unique to a single family.