- The Washington Times - Tuesday, August 31, 2010

Women at genetic risk for breast and ovarian cancer strongly reduce their chances of developing such diseases by having their breasts, ovaries and fallopian tubes removed, a large study has found.

Relatively few women carry inherited mutations of the BRCA1 or BRCA2 genes but, for those who do, the risk of cancer during their lifetimes is high.

“It is important that a woman consult a genetic counselor if she has a family history of breast cancer or ovarian cancer so that she can consider genetic testing,” said Cara Tenenbaum, vice president of policy and external affairs for the Ovarian Cancer National Alliance.

Breast cancer risk for women with either mutation is 56 percent to 84 percent over their lifetime, said the study by Dr. Susan M. Domchek and colleagues, which appeared in the Sept. 1 issue of the Journal of the American Medical Association (JAMA).

The risks for ovarian cancer with these mutations range from 35 percent to 63 percent for women with BRCA1, and 10 percent to 27 percent for those with BRCA2.

Medical professionals have long recommended prophylactic mastectomies (breast removal) and salpingo-oophorectomy (removal of fallopian tubes and ovaries) to ward off a cancer diagnosis, but they weren’t sure of the actual outcomes.

The study followed 2,482 women with BRCA mutations for several years. It compared them by type of mutation, whether they had a prior cancer diagnosis and long-term outcomes.

Of the women who chose to get mastectomies to prevent breast cancer, none received a cancer diagnosis three years later, wrote Dr. Domchek of the University of Pennsylvania School of Medicine in Philadelphia.

In contrast, 7 percent (or 98) women “without risk-reducing mastectomy over a similar follow-up period were diagnosed with breast cancer,” the researchers said.

The surgery to remove ovaries and fallopian tubes — which ends a woman’s ability to conceive a child — was found to be effective in preventing breast and ovarian cancers and was even associated with lower mortality, the authors said.

Of the women who had that surgery, 1 percent developed ovarian cancer.

In contrast, when women who underwent risk-reducing salpingo-oophorectomy were compared with those who did not, the former group had fewer deaths from any cause (10 percent versus 3 percent), fewer deaths from breast cancer (6 percent versus 2 percent), and fewer deaths from ovarian cancer (3 percent versus 0.4 percent), the researchers found.

The Domchek study — the largest to date — “demonstrates the benefit of risk-reducing procedures for women with strong genetic predispositions for breast cancer,” Dr. Laura Esserman and Dr. Virginia Kaklamani said in a JAMA editorial.

With better data on outcomes with these interventions, women with these mutations “can make more informed choices” about whether to have these serious surgeries or “to opt for intensive surveillance.”

Intensive surveillance means mammograms and/or magnetic resonance imaging every six months, and vaginal and blood screenings every four months.

Ovarian cancer has been called a “silent killer” because it is hard to detect in its early stages. About 15,000 American women die as a result of the disease each year.

“We are happy to have another study to confirm that women who are at high risk of developing ovarian cancer have options to prevent ovarian cancer,” Miss Tenenbaum said.

The prevalence of BRCA mutations is thought to be fairly low. A 2007 study in JAMA involving some 1,700 people with breast cancer, found the highest incidence of the BRCA1 mutation in Ashkenazi Jews (8.3 percent). Among other groups, the mutation was seen in 3.5 percent of Hispanics, 2.2 percent of whites, 1.3 percent of blacks and 0.5 percent of Asians.

Still, with cancer risks so high with the mutations, health care workers have long advised pre-emptive surgeries to remove or reduce the risk. However, mastectomies are serious surgeries that take weeks of recovery, especially if breast reconstruction is performed at the same time. The removal of ovaries typically forces a woman into menopause and may lead to heart problems or osteoporosis.

The Domchek study included women in the United States as well as Austria, England and the Netherlands. All the women were cancer-free at the start and most were younger than 50 at the start of the study. Counselors helped them choose between surgery or increased surveillance. More than half the women had neither surgery.

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