A lethal cancer's long reach

Dr. Katharine Esselen vividly recalls one of her most tragic cases. A woman in her 50s showed up with a hallmark sign of ovarian cancer — a bloated belly. Quickly, Dr. Esselen and her colleagues confirmed the diagnosis, learning the woman had mentioned this and other symptoms to her primary care doctor elsewhere in the past. But her doctor never asked about any family history of the disease — a glaring omission, since the woman's mother had died of ovarian cancer in her 30s.

"This was a super-fit and energetic woman who'd been good about getting care, and it broke my heart because we diagnosed her when she was incurable," recalls Dr. Esselen, a gynecologic oncologist at Harvard-affiliated Beth Israel Deaconess Medical Center. "It was such a missed opportunity to refer her for genetic counseling or testing," along with tests that may have led to earlier diagnosis.

While most women diagnosed with ovarian cancer don't have close relatives who have had the disease, family history is the top risk factor for developing ovarian cancer, accounting for up to one-quarter of the 20,000 cases diagnosed in the United States each year. But this stark fact flies under the radar for many women, who remain largely unaware of the disease's risk factors and what to watch for, Dr. Esselen says.

Ovarian cancer kills more women than any other malignancy of the reproductive system, claiming about 13,000 lives annually, according to the American Cancer Society (ACS). Only 10% to 20% of patients are diagnosed at early stages, before a tumor spreads beyond the ovary. "It's often caught at more advanced stages," Dr. Esselen says. "It's almost luck when we catch it at Stage 1 or even Stage 2."

Speak up about symptoms

A major reason why ovarian cancer is so difficult to detect is that symptoms tend to be vague and don't point specifically to the ovaries. In addition to abdominal bloating, they might include

• pelvic pain or discomfort
• changes in bowel or bladder habits
• feeling full earlier when eating
• fatigue
• unusual vaginal discharge or bleeding
• pain during sex.

"Symptoms are incredibly subtle at first, and ovarian cancer is often completely asymptomatic. It isn't until the disease is more advanced that women have more symptoms," Dr. Esselen says.

Another barrier to detection is the lack of a reliable screening test. It's important to know that a Pap test, which screens for cervical cancer, cannot check for ovarian cancer. A CA-125 blood test can be elevated in women with ovarian cancer, but it isn't accurate or sensitive enough to be used on a widespread basis.

But if you're having persistent symptoms not completely explained by digestive or urinary problems, Dr. Esselen recommends asking for a "simple and inexpensive" pelvic ultrasound. If women with abdominal bloating and discomfort got a pelvic ultrasound earlier in their diagnostic workup, doctors would likely be able to identify them a few months or even a year before they end up being diagnosed with advanced ovarian cancer, she says.

Respond to risk factors

As we get older, our risk for ovarian cancer rises. Half of all women diagnosed are 63 or older, according to the ACS. Other risk factors include a history of infertility or never having been pregnant; giving birth for the first time after 35; being overweight or obese; smoking; and a past diagnosis of breast, colorectal, or endometrial cancer.

Some of those predisposing factors can't be changed. Neither can family history. But you should be especially alert to ovarian cancer if your mother, sister, grandmother, aunt, or daughter has had the disease, Dr. Esselen says. The lifetime risk for women with inherited mutations in the BRCA1 or BRCA2 gene — more common among those of Ashkenazi (Eastern European Jewish) heritage — is far higher than for women in the general population. Other, lesser-known gene mutations may also contribute to the malignancy.

Don't rely on commercial DNA test kits to determine whether you're genetically vulnerable, however, since these don't test for all mutations known to underlie risk. "We encourage more complete testing through a doctor, because a lot of genes aren't included in commercial tests, which may miss a family's particular gene," Dr. Esselen says, "and patients may be falsely reassured by a negative test."

At a minimum, women with a family history should undergo an internal pelvic exam from their gynecologist every year. Ideally, Dr. Esselen advises meeting with a genetic counselor to pinpoint risks and discuss options. "The best prevention is to remove their fallopian tubes and ovaries," she says. "In patients who are truly high-risk from a known mutation or strong family history, that's what we recommend."

Newer therapies are extending the lives of women with advanced ovarian cancer, she adds, "but the best advance would be detecting ovarian cancer earlier or preventing it from happening altogether."

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