AJR: Genetic testing crucial in determining high-risk ovarian cancer population

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Because mutations within the BRCA1 and BRCA2 genes are currently the strongest known predictors of ovarian cancer risk,  at-risk family members should be offered genetic testing for the prevention of this deadly disease, wrote Cassandra Gulden and Olufunmilayo Olopade, both of the Center for Clinical Cancer Genetics at the University of Chicago Medical Center, in an opinion piece in the February issue of the American Journal of Roentgenology.

The article reviewed strategies for identifying high-risk individuals and discussed risk-reducing options for women. “Prevention of ovarian cancer starts with identifying women at high-risk for this deadly disease,” wrote the authors. “Less than 20 percent of ovarian cancers are found in early stages when the cancer is most treatable. The American Cancer Society estimated that approximately 21,000 women would be diagnosed with ovarian cancer in 2009, which makes it the ninth most common cancer in women; however, ovarian cancer is the fifth most common cause of cancer death.”

Until better screening methods for this cancer can be developed, wrote the authors, identifying high-risk women is important. However, ovarian cancer risk factors are not well-understood, and risk assessments for ovarian cancer today typically consist of physicians attempting to piece together a woman's personal and family history risk factors.

The authors said that risk-reducing surgeries, including bilateral salpingo-oophorectomy, as well as the administration of oral contraceptives are options for women that are identified as high-risk for the prevention of ovarian cancer.

“Unfortunately, It is difficult to determine how each [personal and family history] factor[s], alone or in combination, contributes to an individual's overall risk of ovarian cancer and, thus, to determine who should be offered surgical interventions," wrote Gulden and Olopade.

In the review, the authors noted that approximately one in 10 ovarian cancers are due to mutations in the BRCA1 and BRCA2 genes and approximately 30 percent of ovarian cancers due to mutations in these genes may be missed if one relies on a family history of cancer to determine who should be tested.

“The hereditary breast and ovarian cancer syndrome is caused by mutations in the BRCA1 and BRCA2 genes. Women who carry these gene mutations have a significantly elevated risk to develop breast and ovarian cancer over that of the general population,” concluded the authors. “Clearly, consideration of genetic testing for individuals with a strong family history of cancer is indicated.”