FRONTLINE CANCER: The courage to ask questions
By Scott M. Lippman
Think of a very serious cancer. You can reduce the risk of that cancer to almost zero, but to do so, you must undergo major surgery. Now imagine that a very good genetic test exists that can determine your risk for that cancer and help you decide whether to pursue the risk-reducing surgery. Would you take the test?
Actress and celebrity Angelina Jolie did. She tested positive for the BRCA1 gene and underwent a double mastectomy to reduce her risk of breast cancer. She also announced plans to undergo an oophorectomy, or removal of her ovaries, to reduce the high risk of ovarian cancer associated with BRCA1. Her actions have prompted new questions and conversations about genetic testing for cancer risk. The recent headlines focused on Jolie’s surgery, reconstruction and recovery, but her story has an equally important message for all of us: Know your family history of cancer.
Jolie had genetic testing for BRCA1 and BRCA2 because of a strong family history of ovarian and breast cancer. Her mother succumbed in 2007 to ovarian cancer; an aunt died of breast cancer just two weeks after the actress announced her surgeries. Genetic testing for cancer risk, however, isn’t for everyone. It’s for people in families with a measurable predisposition to cancer. Genetic testing is a very personalized way to sort out which family members have a high cancer risk, and what they can do about it.
Experts who conduct genetic testing are called genetic counselors. Their goal for families at high risk is to steer them toward cancer prevention and early detection. Prevention and detection experts then figure out what cancer screening tests or procedures are appropriate, considering factors like a person’s age, which gene is increasing his or her cancer risk, and what other medical issues may be involved.
For example, options for women who test positive for BRCA1/2 may include mastectomies and reconstruction, as Ms. Jolie chose, which reduces the risk of breast cancer as much as possible. Alternatively, many women opt for increased monitoring for indications of disease by adding a breast MRI to yearly mammograms. Like deciding to get tested for genetic cancer risk, these options take courage, too.
It’s tougher to deal with the risk of ovarian cancer in BRCA1/2-positive women. There is no accurate current test to detect ovarian cancer at an early stage, so most of these at-risk women have their ovaries removed when no longer wishing to bear children, as they approach menopause.
Genetic counselors are specialists in evaluating a family’s history, determining whether genetic testing could be useful, and coordinating the genetic testing process for the family. They also understand a very real and important concern for many people: It is emotionally difficult to discuss your relatives’ cancers, especially when your family has had more than its share of cancer cases.
Lisa Madlensky, Ph.D., is a board-certified genetic counselor specializing in cancer genetics at the UC San Diego Moores Cancer Center. A counseling appointment with her usually lasts at least an hour. She goes through the family history in detail and then provides an accurate assessment of the family’s cancer pattern.
Although Jolie has drawn attention to BRCA1/2 and the risks of ovarian and breast cancer, it’s important to know that other genes can increase the risk of other cancers. For example, four genes in a rare condition called Lynch Syndrome increase the risk of colon, uterine and other cancers. Families with Lynch Syndrome receive a personalized medical management plan designed by high-risk specialist teams (including doctors from multiple disciplines) that can include yearly colonoscopies and other tests.
Other syndromes are associated with some pancreatic cancers, melanomas or endocrine cancers. Although most of these syndromes are fortunately quite rare, when they happen in your family, it’s important to connect with a cancer genetics specialist to get the most up-to-date and personalized information. There is no “one size fits all” approach. Just as more personalized approaches are increasing in cancer treatment, they are increasing in cancer prevention and early detection, too.
Another example of personalized breast-cancer risk assessment and prevention that I’ll visit in a future column is the Athena Breast Health Program at the five UC medical centers.
The first step, though, can be the toughest. It takes courage to begin asking questions about family cancer history or genetic testing for cancer risk, as Ms. Jolie and others have done. Fortunately, Dr. Madlensky and other expert cancer genetic counselors throughout San Diego are available to help. They guide people through this complicated process, ultimately reducing the toll of cancer on families who have inherited a high risk.
—Scott M. Lippman, MD, is Director of UC San Diego Moores Cancer Center. His column on medical advances from the front lines of cancer research and care appears in the La Jolla Light the fourth Thursday of each month. You can reach Dr. Lippman at firstname.lastname@example.org.
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