Genetics in Medicine: Women who carry high-risk BRCA mutations opt for surgery

In women who test positive for BRCA 1/2 mutations associated with a high risk of breast or ovarian cancer, some key psychological factors influence the decision to undergo risk-reducing surgery, reports the December Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, and pharmacy.

Women who feel strongly before testing that they'll opt for surgery if they have the mutant BRCA gene don't hesitate to follow through once they learn the results, according to a new study led by Dr. Claire Julian-Reynier of Institut Paoli-Calmettes, Marseille, France. The study also found that older women and those with at least two children were more likely to undergo risk-reducing ovarian surgery.

Psychological Impact of BRCA Testing Also Affects Decision-Making
The researchers analyzed factors affecting the decision to undergo risk-reducing surgery in 241 women who tested positive for BRCA1/2 mutations associated with an increased risk of breast and/or ovarian cancer. All of the women were cancer-free, but belonged to a family in which a cancer-related mutation had been identified.

For women who carry high-risk BRCA mutations, undergoing surgery to remove the breasts (mastectomy) and/or ovaries (oophorectomy) can reduce the risk of developing cancer. Over two to five years' follow-up, about 33 percent of the women underwent risk-reducing oophorectomy, five percent had both mastectomy and oophorectomy, and three percent had mastectomy alone.

Before testing, 55 percent of the women said they would "certainly or probably" undergo risk-reducing oophorectomy if tests showed the high-risk BRCA genes. After testing, this group made the decision to have surgery faster and more frequently than women who were "undecided or opposed" before testing. Women who reported a greater psychological impact of BRCA testing were also more likely to undergo oophorectomy.

The rate of risk-reducing ovarian surgery increased sharply with age in women who tested positive for BRCA mutations: from less than two percent for women under age 30 to almost 80 percent for those older than 50. Women who already had at least two children were also more likely to opt for oophorectomy.

Deciding on surgery before testing and higher psychological impact were also linked to a quicker decision to undergo risk-reducing mastectomy. Women who had younger children (under age 15) at the time of testing and those who had a close relative (mother or sister) with breast or ovarian cancer were also more likely to opt for mastectomy.

Women who test positive for harmful BRCA1/2 mutations face a tough decision whether to undergo risk-reducing surgery. Previous studies of the decision-making process have had important limitations. The new study is the first to examine psychological and other factors affecting decision-making in a large sample of women with positive results on BRCA testing.

The results suggest that women who have already made up their mind to undergo surgery before BRCA testing follow through on that decision if the results are positive. However, the authors note that nearly one-third of women who said they were opposed to risk-reducing surgery before testing, changed their minds after testing revealed they were at high risk.

Women who experience a greater psychological impact of testing appear more likely to opt for either type of surgery. Age and childbearing history are "obviously decisive" factors affecting the decision to undergo risk-reducing oophorectomy.

Dr. Julian-Reynier and colleagues call for further studies to measure women's satisfaction with the decision-making process, including long-term follow-up of women who have been tested for BRCA mutations. They write, "Because guidelines are updated regularly in the light of new evidence-based knowledge, it is important to keep in touch with carriers."


The American College of Medical Genetics (ACMG)


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