Expert Analysis Highlights:

• Genetic test (oncotype DX) aids decision as to whether or not to undergo chemotherapy after surgery
• Profile of the breast cancer genes can be used to predict whether or not there is a survival benefit of adding chemotherapy to hormone therapy
• Test is covered by most private insurance and by Medicare
• A good starting place to learn more  is the section on predicting recurrence and genetic testing on our companion website

Genetic testing may help decisions to avoid breast cancer chemotherapy. For some women with early stage breast cancer, a genetic test (oncotype DX) may be helpful to you and your oncologist when deciding whether or not to undergo chemotherapy after surgery. This test is made on the breast cancer itself for which a multi-gene assay is performed to determine the “genetic signature” of your tumor. The profile of the breast cancer genes can then be used to predict with accuracy whether or not there is a survival benefit of adding chemotherapy to hormone therapy for those women who have hormone-responsive (ER+) breast cancer, especially those who are post-menopausal. This assay has been recommended both by the Guidelines of the American Society of Clinical Oncology and the National Comprehensive Cancer Center. When indicated, the test is covered by most private insurance and by Medicare.

Those women for whom the genetic testing may yield valuable information are two groups:

1. Women who have no evidence of spread to their lymph nodes and whose breast cancer expresses hormone receptors (estrogen-receptor-positive) and
2. Women after menopause whose cancer has spread to their regional lymph nodes and whose breast cancer is hormone-receptor-positive.

In both of these circumstances hormone therapy with either Tamoxifen or one of the aromatase inhibitors (Arimidex, Latrozole, etc.) would be indicated as standard therapy for at least five years. The side effects in most women are very tolerable, if not minimal. On the other hand, chemotherapy has more side effects and should be considered only when the potential survival benefit outweighs the risk or toxicity of receiving drug therapy in addition to hormone therapy.

Ask your doctor about this genetic test if you have the stages of breast cancer described above. Though advances in cancer chemotherapy have been dramatic, especially in breast cancer, it is equally valuable to know which women have such a good outcome after surgery and hormone therapy that they do not otherwise get from additional chemotherapy.

In the March 8,2010 issue of the journal Cancer, researchers at the University of North Carolina surveyed 77 women with breast cancer who underwent genetic testing. One-third reported that they did not understand the doctor’s explanation of the genomic test and one-quarter felt distress as a result of the discussion. On the other hand, most women agreed that genetic testing helped them understand whether their treatment would be successful. I learned from this article that:

1. Doctors need to do a better job of educating patients and explaining the test results, and
2. Patients need to get enough basic information and knowledge of the jargon (terminology) of these tests so they can understand the results and the meaning behind them.

A good starting place to learn more  is the section on predicting recurrence and genetic testing on our companion website, patientresource.net.

Also for more information, go to www.oncotype.com or review the Guidelines from ASCO at www.Cancer.net or NCCN at www.nccn.org.

This is an inspiring and informative interview with Congresswoman Debbie Wasserman Schultz (D-Florida) and Robin Roberts of Good Morning America. She shares her experience and discusses how she approached her children about her disease. I would recommend this to cancer patients as one approach to talking with your children about their cancer without it being a threatening, fearful experience.

Schultz reveals that she had her first mammogram at age 40, which was normal, but then found a lump in her breast a year later that turned out to be a breast cancer. There were many considerations that she discusses about her surgical treatment options, about the impact of her genetic testing and about the timing of telling her children, 9-year-old twin girls and a 5-year-old boy. She had an early breast cancer detected, and also obtained genetic testing and discovered she was positive for the BRAC 2 gene. She was heading for a lumpectomy, but instead decided on double mastectomy after learning the results of genetic testing. The removal of the opposite breast was a strong consideration in her circumstance, even though it is an extreme form of cancer prevention, because she faced 65% odds of having a later recurrence in her normal (opposite) breast. Since she was BRAC2+, she also faced a high risk of developing ovarian cancer, so she elected to have her ovaries removed as another component of cancer prevention surgery.

Everyone responds to different medicines for cancer: how it is absorbed in the intestinal tract, how it is metabolizes (broken down or altered) in the liver and other organs, and how it is excreted from the body. This short FDA video on genetic testing explains how a new genetic test can help identify those who may have more severe reactions to the toxic effects of a popular drug called Camptosar.

According to the FDA report, a gene called UGT1A1 produces an enzyme that metabolizes Camptosar. Variations in this gene can influence a patient’s ability to break down the drug. About 10 percent of the North American population has a variation of the UGT1A1 gene that reduces their ability to metabolize Camptosar, leading to high blood levels of the drug and a higher risk of toxic side effects. If these patients are given standard doses of Camptosar, about half will develop severe neutropenia, which can be fatal.

A test, called the Invader UGT1A1 Molecular Assay, can identify whether a patient has the genetic variant affecting the metabolism of Camptosar and thus would be at higher risk for developing severe neutropenia. The drug label says to consider lowering the starting dose of the Camptosar for those patients found to be high risk.

This is an inspiring and informative interview with Congresswoman Debbie Wasserman Schultz (D Florida) with Chris Matthews of MSNBC.

She describes how she had an early breast cancer detected, and also obtained genetic testing and discovered she was positive for the BRAC 2 gene. She was heading for a lumpectomy, but instead decided on double mastectomy after learning the results of genetic testing. The removal of the opposite breast was a strong consideration in her circumstance, even though it is an extreme form of cancer prevention, because she faced 65% odds of having a later recurrence in her normal (opposite) breast. Since she was BRAC2+, she also faced a high risk of developing ovarian cancer, so she elected to have her ovaries removed as another component of cancer prevention surgery.

This interview was a wonderful description of her decision-making, the impact of having genetic testing, and her resilience of working in a rigorous and public job even while she underwent 7 surgeries during a years time and kept her treatments private until the end of her treatment.

Congresswoman Debbie Wasserman Schultz has introduced congressional legislation that would help younger women have better access for breast cancer screening and treatment at an early stage. Let’s hope this makes it to the President’s desk!

Congresswoman Debbie Wasserman Schultz also gave a great interview about counseling your children and how to deliver the news to young children.  See “Congresswoman Shultz on Talking with Her Kids About Her Breast Cancer.”

Also, read the blogs about “Navigating Through the Complex Decisions of Breast Cancer Surgery”
and “Choosing Between a Mastectomy or Lumpectomy.”