Meeting with a Genetic Counselor

Editor's Note: A LifeBridge Health patient recently met with one of our genetic counselors. She graciously agreed to share her story in the hopes that it will help others.

A lot of women in my father’s side of the family have been diagnosed with breast cancer, which is why my doctor recommended that I meet with a genetic counselor. Knowing that one is genetically predisposed to a certain cancer can allow screening to occur more often and start at a younger age in attempts to catch any potential cancer at its earliest stage, when it is the most treatable.

There are two known gene mutations – BRCA1 and BRCA2 – that greatly increase one’s odds of getting breast cancer. That’s because these gene mutations interfere with the body’s ability to suppress tumors in the breast. It turns out that our bodies frequently make abnormal cells. However, the body also has mechanisms to rid itself of these irregular cells. When these mechanisms fail or aren’t working properly (as in the case of BRCA1 and BRCA2 mutation carriers), that’s when cancer can occur. Having the BRCA mutations increase a woman’s risk of breast cancer to anywhere from 60 to 85 percent. These same mutations also increase the odds of getting ovarian cancer to about 45 percent.

I went to the Alvin & Lois Lapidus Cancer Institute to meet with Shannan DeLany Dixon, M.S., C.G.C., a genetic counselor and director of the Master's in Genetic Counseling Program at the University of Maryland School of Medicine. Shannan regularly sees patients at Sinai and Northwest hospitals. First, she asked me questions related to my personal risk for breast cancer, such as when I had my first menstrual cycle, if I was ever pregnant, my age, if I had ever taken birth control pills, and how much I drank alcohol. Experts estimate that about 75 percent of breast cancer cases are attributable to these lifestyle factors and have nothing to do with our genes; 15 percent are caused by a combination of genetic and lifestyle factors; and 10 percent are inevitable based on genetic makeup.

Shannan mapped out my complete family tree, noting which family members had conditions such as breast cancer, severe diabetes, heart disease and stroke. (As part of her job, she searches for all known genetic-related diseases, not only breast cancer.) While my paternal grandmother and both of her sisters had breast cancer, my grandmother was the only one to get it when she was only 39; the other family members were all women in their 50s, 60s and 70s, when breast cancer is not unusual. Shannan mentioned that there could have been an environmental factor in the town in which they lived that would have caused this breast cancer cluster.

If my grandmother’s breast cancer had been caused by the gene mutation and not her environment or lifestyle, there is a 50 percent chance that I would have inherited a mutated gene from my father. However, as long as I haven’t also received the mutation from my mother, I would not have increased risk for breast cancer because of my genes.

Based on my family tree, Shannan estimated that there would be about a 6 percent chance that a genetic test would come back positive for me, which would not necessarily mean that I would have a cancer-causing mutation to my BRCA1 or BRCA2 genes. A positive test result might show “a variant of unknown clinical significance,” because there is some normal variation to BRCA1 and BRCA2 genes that researchers are still sorting out.

As it turns out, I decided not to move forward with the genetic test because my mother’s side of the family is largely cancer-free and no one in my family is known to have had ovarian cancer. (Had either of these factors been otherwise, my decision would be different.) Testing would have been an easy process, involving either a blood sample or a cell specimen collected from the inside of my cheeks. I was surprised to learn that my insurance would have covered almost the entire cost of the test.

Meeting with Shannan gave me tremendous peace of mind. I still run the risk for breast cancer (1 in 8 women will be diagnosed at some point in her life), but I now think it’s unlikely that I have a BRCA1 or BRCA2 gene mutation. This doesn’t mean I can let my guard down. I will still get my annual mammograms and do all that I can through diet and exercise to lead a healthy lifestyle – the best form of cancer prevention.

Do you have an increased risk for breast cancer based on certain lifestyle factors? Take LifeBridge Health’s free risk assessment at Know Your Health. There are also several helpful websites with information on genetics, such as the Family Cancer Genetics Network and Facing Our Risk of Cancer Empowered (FORCE).

Breast Cancer Screening Offered

If you're a woman, mark your calender for Wednesday, October 7. That's when we're inviting you to join us for an evening of frank and honest discussion about women’s breast health hosted by WJZ-TV 13 news anchor Mary Bubala.

Clinical breast exams will be offered on a first come basis, and all are encouraged to take tours of the new, spa-like Samuelson Breast Care Center. Light refreshments will be served.

SPEAKER PROGRAM

Dawn Leonard, M.D.
Breast surgeon
Medical director, Herman & Walter Samuelson Breast Care Center

Dr. Leonard will open the evening’s program with a discussion about regular screening and early detection of breast cancer.

Deb Kirkland, B.S.N., M.P.H.
Breast nurse navigator, Herman & Walter Samuelson Breast Care Center
Deb will talk about the importance of breast self exams/breast self awareness, especially in younger women. As a survivor, she will share her personal experience with breast cancer and how it evolved into the role of Nurse Navigator for breast cancer patients in the Breast Care Center.

Shannan DeLany Dixon, M.S., C.G.C.
Genetic counselor, LifeBridge Health
Assistant professor, Department of Pediatrics, Division of Human Genetics, University of Maryland School of Medicine
Shannan will discuss the key risk factors and warning signs of hereditary breast cancer. She will focus on the importance of a family history of cancer and talk about two key genes, BRCA 1 and 2. She will also cover what genetic testing can and cannot tell us, and how this information is useful to doctors and patients.

SCHEDULE

5:30 – 7:00 p.m. Registration, clinical breast exams and self-guided tours.
7:00 – 8:00 p.m. Speaker program and question and answer session.
8:00 – 8:30 p.m. Clinical breast exams and self-guided tours.

To register for a screening and/or the speaker program, call 410-601-WELL (9355).

Genes and Breast Cancer

By Deb Kirkland, RN, BSN, MPH
Nurse Navigator, Herman & Walter Samuelson Breast Center at Northwest Hospital

Cancer is caused by mutations in our genes. Sometimes our body can repair these changes, but other times it cannot. About 90 percent of cancers result from changes that occur over our lifetime. The other 7-10 percent of breast cancer is actually caused by specific hereditary genes that have been identified as the BRCA1 and BRCA2.

These genes are associated with breast and ovarian cancers. One in 40 Ashkenazi Jewish women express this particular gene mutation. They are dominant genes, meaning they may be passed on from either the paternal or maternal side of the family. Carrying these genes may increase one’s risk of developing breast cancer and ovarian cancer.

With breast cancer there is screening for early detection, and in the event one is diagnosed with breast cancer, we have many treatment options available that increase the likelihood of survival. However, ovarian cancer, which may advance without warning, is often detected later, and treatment options unfortunately tend not to be as effective.

So what does this mean for you? If you have a family history of breast and ovarian cancer, you may want to consider genetic counseling or genetic testing. Discussing your risk with a counselor can help clarify whether genetic testing is right for you. Another helpful resource is the Facing Our Risk of Cancer Empowered (FORCE) Web site.

Please join us at 6:30 p.m. on Thursday, October 15 at Northwest Hospital to hear a presentation on Genetics and Breast Cancer, given by Leslee Gold, RN, our local FORCE representative. In addition, a personal story will be shared by a young breast cancer survivor who carries this gene. Hear first-hand how this gene impacts her life. This talk will be held in the Owings-Reister Room and dinner will be provided. Please RSVP 410-521-8831 if you are interested in joining us.

If you are interested in genetic testing, call 410-601-WELL to set up your appointment.