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One in five women with ovarian cancer has genetic mutation

Ovarian cancer is known as a silent but deadly disease. Because it is largely asymptomatic, by the time many women are diagnosed with the disease, it is has often spread to advanced stages. As a result, the average five-year survival rate is just 43 per cent.

But now, new research from the Washington University School of Medicine suggests that screening women without a family history of the disease may be helpful in catching it.

The study, published in the journal Nature Communications, shows that one in five ovarian cancer patients with no known family history of the disease had an inherited genetic mutation.

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“We found that 20 per cent of women with ovarian cancer had inherited mutations in a gene pathway known to be important in inherited breast and ovarian cancer. That number seems pretty high,” explains senior author Li Ding. “This tells us that we need to find better ways to screen women for ovarian cancer, even if they don’t have family histories of the disease.”

Women with a family history of breast cancer, ovarian cancer or rare cancer syndromes are at increased odds of developing ovarian tumors.

The researchers note that while inherited mutations by themselves are unlikely to cause ovarian cancer, they may conspire with other genetic changes acquired over a woman’s lifetime to tip the balance toward cancer.

“We’re now able to obtain a fuller picture of the way cancer develops in a particular patient,” Ding says. “More studies are needed, but our findings could have important implications for developing better screening strategies for ovarian cancer and improving early detection.”

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The study looked at 429 ovarian cancer patients between the ages 26 to 89 and performed a genetic analysis of each woman’s tumor and her own DNA.

The researchers surprisingly found that some of the inherent mutations occurred in genes that have never been linked to the disease.

“With more research, we expect to find additional mutations linked to hereditary ovarian cancer,” says Ding. “Thus, 20 per cent is a conservative estimate.”

Ovarian cancer affects approximately 2,600 Canadian women every year with approximately 1,750 of these women scumming to the disease. Its symptoms -- such as bloating, pelvic pain and frequently feeling the need to urinate -- are non-specific and often mimic those of more common diseases.