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Knowing your risk: Genetic counseling for breast cancer

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added 10/7/03

Ann Arbor - To a woman with a family history of breast cancer, her body can feel like a ticking time bomb. Until recent years, the only course of action for these women was to stay vigilant and undergo regular mammograms.

Now genetic testing for the two major genes known to account for a significant number of breast cancers is becoming more and more available. And along with testing, genetic counseling at specialized centers, such as the University of Michigan Comprehensive Cancer Center, is offering much-needed advice to woman at high risk of developing the disease.

“I am at risk because of my family history,” says Mimi Joling, a 47-year-old Ashkenazi Jewish woman. “My mother was diagnosed at age 51. She dealt with breast cancer and other cancers for about eight years and then passed away at age 59. My sister was diagnosed just three months ago at age 48 and is currently undergoing treatment.”

“Clearly, breast cancer is a major health problem in the United States, with more than 180,000 women diagnosed each year,” says Sofia Merajver, M.D., Ph.D., associate professor of internal medicine at the University of Michigan Health System. “Yet, in spite of great new treatments and major scientific efforts, one in four of these women will go on to die from their breast cancer. That’s why we are focusing on the genetic aspects of breast cancer – to get at its root cause and hopefully improve these odds,” she says.

Experts know that family history is a very important risk factor in breast cancer – the second most important factor after age. It is estimated that approximately 30 percent of breast cancers are directly or indirectly caused by genes that are inherited.

“However, it’s important to be clear that family histories are only suggestive of the presence of a gene in a particular family member, it does not determine the presence of a gene,” says Merajver, who also directs the Breast & Ovarian Cancer Risk Evaluation Program at the U-M Comprehensive Cancer Center.

For Mimi Joling, that’s where genetic testing came in. “I really wanted to know more of what my risks were and to understand, as well, what options I had to help prevent myself from getting cancer. I also wanted to know if I was a carrier of the mutation, which would put my two boys at risk for having the mutation as well. So I decided to be tested.

“ I thought for sure that I would be negative. But then, when I found out I tested positive for the gene mutation, I was totally shocked. I started crying, and it was really emotional,” Joling remembers.

Merajver explains that once accurate genetic and family history information is available to a patient, that person has many options. “Helping patients distinguish between the available paths in a nondirective way is one of our major jobs, and our genetic counselors are highly trained in this area.”

“My role is that of a patient advocate,” says Kara Milliron, M.S., C.G.C., a certified genetic counselor at the U-M. “Even before a high-risk patient may decide to be tested, I look at family history and try to determine what the potential risks are to that individual for either having the genetic condition or passing it on.”

Some of the clues Milliron looks for to determine if there may be an inherited susceptibility to breast or ovarian cancer in a family are:

  • High numbers of family members with cancer diagnoses throughout several generations either maternal or paternal
  • Family member diagnosed with cancer before age 50
  • Family members who have been diagnosed with multiple cancers (for example, breast and ovarian)
  • Male breast cancers, or clusterings of other cancers such as colon, prostate, stomach or pancreatic

In all, genetic counseling sessions take about two hours and include a great deal of education: what are genes, how mutations or changes in genes can lead to cancer, and what are the differences between mutations that are passed on in families as opposed to those that may be acquired throughout a lifetime.

Counselors also discuss the risks, benefits and limitations of genetic testing. They may also make screening recommendations, as well as advise patients of medicines that may help reduce the risk of developing cancer.

At this point, Milliron understands when some high-risk patients decide they just don’t want to know if they carry the genetic mutation. “And that’s okay,” she says. “The right to not know is just as important as the right to know – and that has to be respected.”

Another reason high-risk individuals may choose not to undergo testing is fear of discrimination. Despite current federal and state legislation specifically stating that this type of medical information cannot be used to deny a person employment or group health insurance, this is a real worry to many, says Milliron.

“However, life and disability insurances are not covered by these laws, so we do encourage patients to get these forms of insurance prior to testing.” she says.

For those who decide they do want to know, testing for the inherited susceptibility to cancer is actually very simple,” says Milliron. “Only about one tablespoon of blood is needed to look for any genetic mutations. It’s really the emotional issues that go along with the testing – and the knowing – that make it not quite so simple.”

But once the facts are known, genetic counselors can provide women with a wealth of personalized information.

“It’s very important for high-risk women, if they want this information, to consider having the genetic testing because there are additional screening mechanisms that can be employed, such as having a clinical breast exam every six months instead of annually or undergoing a new procedure called ductal lavage that screens cells from the breast ducts for abnormal changes,” says Milliron.

Genetic information can also help women make difficult decisions about taking ‘chemoprevention’ medicines such as Tamoxifen, which may have potentially serious side effects, or undergoing major surgery to remove their breasts or ovaries before a cancer diagnosis.

Joling’s results – testing positive for the BRCA 1 mutation – put her at a greatly increased risk of getting not only breast cancer but ovarian cancer as well.

“After I had a few days to absorb my results I realized this was a good thing for me to know. The counseling provided me with information on all the options available, and I decided my course of action was to have my ovaries removed,” says Joling. “That has reduced my risk of ovarian cancer by 90 percent and my risk of breast cancer by half. And I’ve also decided to take Tamoxifen, which I’ll continue for five years.

“Right now, I feel wonderful,” she says. “I’m really happy with the decisions I’ve made.”

For more information, visit the following web sites:

U-M Comprehensive Cancer Center: Breast Cancer Disease &Treatment Information

U-M Comprehensive Cancer Center: Cancer Genetics Information Guide

Human Genome Project

Breast Cancer Genetics Network

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