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Mutations as Indicators

The Role of Family History and BRCA Mutation Status in Determining the Stage of Ovarian Tumors

Can BRCA1 Mutations Lead to Other Kinds of Tumors?

Histopathology, FIGO Stage, and BRCA Mutation Status of Ovarian Cancers from the Gilda Radner Familial Ovarian Cancer Registry

International Society of Gynecological Pathologists, 2003

Bruce A. Werness, Susan J. Ramus, Richard A. DiCioccio, Alice S. Whittemore, Kim Garlinghouse-Jones, Ingrid Oakley-Girvan, Yoshiaki Tsukada, Patricia Harrington, Simon A. Gayther, Bruce A.J. Ponder, and M. Steven Piver

Although scientists found a link between the presence of the BRCA mutation and a patient’s chance of being diagnosed with ovarian cancer in the mid-1990s, it took many years before the cause of this link was widely understood. In a 2003 study, researchers using data from the Gilda Radner Familial Ovarian Cancer Registry began a deeper exploration of why the presence of these mutations may be an indicator of an increased risk of harder-to-fight ovarian tumors.

Using data collected by the registry, scientists were able to compare ovarian cancer patients who had mutations in the BRCA1 or BRCA2 marker with those who did not. While patients with the mutation still accounted for a small number of all ovarian cancer patients—just 10 percent—those that were part of that group appeared to have tumors that were considered higher grade.

The tumor grade system helps scientists classify how normal or abnormal tumor cells appear, and how likely they are to spread to other parts of the body. Patients with the BRCA1 or BRCA2 mutations were more likely to have a higher-grade tumor—meaning their cancer would be tougher to treat. By understanding this link, patients who have the mutation can be more aware of their risk of the disease, and doctors can best determine an effective course of treatment once a tumor has been found.