Advances in Research/ Screening/Genetic Testing

With such a devastating disease that presents in advanced stages so often, research efforts have focused on ways of diagnosing the disease early through screening. Unfortunately, there is no screening test or combination of tests that has proven of benefit for the average patient. In women considered to be high risk, recent evidence suggests that screening transvaginal ultrasound may be of benefit. But, even in this carefully screened and evaluated group of patients, cancers eluded the investigators and were diagnosed within a year of their evaluation. In women who come from families where cancers of the breast, ovary, endometrium, and colon cluster, genetic testing can sometimes be of benefit. Testing requires a blood or tissue sample from the woman with the cancer to determine if a variant of the BRCA 1 or 2 gene exists, and if so, what it is. When this information is available, then the blood of other family members can be tested to determine if they carry the same abnormal gene. A mother has a 50% chance of transmitting the gene to her children (both boys and girls) and a 25% risk of transmitting it to her grandchildren. In some families where the expression of the gene is strong, women who carry the abnormal gene have a 40% lifetime risk of developing ovarian cancer. Many would recommend that such a woman foregoes imperfect screening tests and simply have her ovaries removed when her childbearing is completed.