Skip to main content

Genetic Testing Aids Early Detection of Gynecologic Cancers

Johns Hopkins Gynecology
January 13, 2015

Rebecca Stone

More patients today are surviving gynecologic cancers, even late-stage ovarian cancers, and among the reasons for the improved survival—and cures—are a combination of aggressive surgical approaches, better and more targeted chemotherapy, and broadening options for treatment.

Another factor, says Johns Hopkins gynecologic oncologist Kara Long Roche from theKelly Gynecologic Oncology Service (KGOS), is the increased use of genetic testing, especially for malignancies like ovarian, fallopian tube and uterine cancer that have no reliable screening tests. The Society of Gynecologic Oncology (SGO) and the American Congress of Obstetricians and Gynecologists (ACOG) have developed criteria for genetic testing, but the bottom line is that patients with either a personal or premenopausal history of a women’s cancer or strong family history (i.e., multiple family members with breast, ovarian, fallopian tube, uterine or colon cancer) should consider testing and possible risk-reducing therapies.

“Genetic testing absolutely saves lives,” says Long Roche. “Risk-reducing surgery results in a 98% decrease in development of these cancers in high-risk women.” Genetic testing is also important because ovarian cancers can be difficult to detect early. Patients may have vague symptoms or continued complaints of bloating, nausea or painful urination and may be told they have irritable bowel syndrome or urinary tract infections.

“Listen to your patients,” says Long Roche. “If they tell you something isn’t right, it’s worth evaluating further.” She adds that one of the most important factors in surviving gynecologic cancers is early treatment provided by a gynecologic oncologist, even if cancer is only suspected or a woman is at high risk. 

Through their clinical and research efforts, Long Roche and her Johns Hopkins KGOS colleague, Rebecca Stone, have dedicated their careers to improving outcomes for women diagnosed with ovarian and fallopian tube cancers. Both are recipients of research grants focused on early detection of these malignancies and work closely in conjunction with the Johns Hopkins Breast Ovarian Surveillance Service to help care for hundreds of women each year who are at high risk for a woman’s cancer. Additionally, they have collaborated with Johns Hopkins scientists Luis Diaz and Bert Vogelstein from the Ludwig Center for Cancer Genetics and Therapeutics at the Johns Hopkins Kimmel Cancer Center on a promising early-detection study involving a novel Pap smear that detects DNA from uterine and ovarian tumors.

“Studies in early cancer detection,” says Stone, “hold the promise of reducing the burden of gynecologic malignancies and helping women already diagnosed with a cancer have the opportunity for better survival.” 

For more information or to refer a patient: 410-955-8240 or 1-844-H-GYNONC (1-844-449-6662).

© The Johns Hopkins University, The Johns Hopkins Hospital, and Johns Hopkins Health System. All rights reserved.