Breast Cancer

Lesson 5: Adjuvant Therapy & Possible Side Effects

Genetic Counseling & Testing

Only about 10% of breast cancers are caused by inherited genetic mutations. We all carry the BRCA1 (Breast Cancer 1) and BRCA2 genes. It is only when the genes mutate, or change for the worse, that they cause trouble. For those of you who are fascinated by the human genetic code, BRCA1 is found on chromosome 17 while BRCA2 is on chromosome 13. These genes do the coding for proteins which suppress tumor function. When they mutate, they don't allow the protein to stop tumors. Women who have this mutation are at greater risk of developing breast or ovarian cancer.

The scientific community has ascertained that hundreds of years ago a DNA mutation occurred in a community of Ashkenazic Jews. The estimate states that 1 in every 50 Ashenazic Jews carries a mutated copy of BRCA1 or BRCA2. There are several mutations that can happen in these two genes, but the specific mutations found in this Jewish population have not been found in anyone outside of the Ashkenazic community. These women have an 85% risk of developing breast cancer, compared to the 12% of the general public.

There is a commercial blood test that can determine if you carry a mutated BRCA1 or BRCA2 gene. But what do you do with this information? Who will help you interpret it and deal with whatever the results are? Are there any drawbacks to genetic testing? Who should be tested?

The fact that you are a woman, and as you grow older, increases your risk more than that of men. But some women are at greater risk. You fall into this category if you have a personal history of breast or ovarian cancer, have had 2 close family relatives with cancer, had a family member with early breast cancer (pre-menopause), have a family member with more than one type of breast or ovarian cancer or if there is a history of breast or ovarian cancer in more than one generation of your family. Ashkenazic Jewish women have a far greater risk factor.

So what do you do? It is generally thought that you should have a cancer risk assessment and counseling by a trained genetic counselor, either with or without genetic testing. The counselor will take a detailed family history, medical record and lifestyle patterns, will provide risk assesment, discuss early detection and prevention options and tell you the risks and benefits of genetic testing.

Let's use me as an example - I had breast cancer. There is no family history of breast cancer. I don't fit into the high risk group. But I have a daughter. Should I or she be tested? Usually, they want to test the person who has/had breast cancer first to see if there is a genetic mutation. If there isn't, my daughter's chance of developing breast cancer is the same as the rest of the female population. But if it is found that I have a mutation, what does that mean for my daughter? Should she be tested? JUST HAVING A MUTATION DOESN'T GUARANTEE THAT YOU WILL GET BREAST CANCER. But what do you do with the information? Since there are no national laws guaranteeing your medical privacy, it is possible that you could be discriminated against for insurance or employment. Many breast cancer groups are fighting for legislation that would safeguard your rights, but as of now, this is not written in stone.

Another factor is cost - the genetic testing is quite expensive, around $2400, and is not covered by insurance.

http://www.myriadtests.com/brac.htm

What do you do if you have the mutation? Your breast specialist will monitor you closely every few months and may offer several prophylactic (preventive) measures - such as a bi-lateral mastectomy (removing both breasts) or an oopherectomy (removing the ovaries, where estrogen is produced) or placing you on Tamoxifen (an anti-estrogen drug). These policies might help you to prevent breast cancer and the constant monitoring (mammograms, CAT scans, ultrasounds, blood tests, etc) may lead to early detection, but NOTHING can promise you 100% that you will or will not get breast cancer. So, back to my daughter and I. She is a young professional, just out of college two years and I haven't discussed genetic testing with her. Why not? No, I am not chicken; I discuss anything with my kids. I have decided that at this point in her life (and mine), genetic testing is not the answer). What if I have the mutation, should she then be tested? What if she has the mutation? In her early 20s, I don't believe she should have to live with a weight over her head or make decisions that can alter her life forever, such as taking a drug that will throw her into chemically-induced menopause, or choosing to give up her breasts or ovaries to ward off cancer. I will discuss genetic counseling/testing with her and it will be her decision. If she wants me to be tested, I will. If she wants to go for genetic counseling, we can. Having gone through mom's cancer is enough for now, I believe. http://www.accessexcellence.org

So what can you do? Faithfully do breast self-exam monthly, get an annual mammogram age 40+ (for daughters of breast cancer survivors, it is recommended that they begin mammos 10-15 years prior to the age their mother developed cancer), eat right, drink in moderation, exercise, avoid smoking and enjoy life!

It has always been stated that women with a family history of breast cancer are at greater risk. Up until now, there has been no study large enough to determine this statistic. A recent article published the THE LANCET http://www.thelancet.com the collaborative analysis from 52 epidemiological studies which included 58, 209 women with breast disease and 101,986 women who were cancer free.

Only 12% of the breast cancer patients reported a first-degree relative with a history of breast cancer. In the control group (those who did NOT have cancer), 7% had a relative with breast cancer history. A first degree relative is a mother, sister and/or daughter. The study methods included data collection from both groups and analysis. Risk ratio for breast cancer (what are your odds of getting the disease) were calculated through logistic regression. The study took into account the following factors: age, menopause status, number of sisters, parity (# of pregnancies), age when you had first child.

The results of this study show that 8 out of 9 women who develop breast cancer do not have a first degree relative affected. What this means is that you still have a greater risk to develop breast cancer if you have a first-degree relative with a history of the disease, but this risk is only 1.7% greater than women with no family history, up to the age of 50. That means that most women with a breast cancer relative will not develop the disease. The most cases of breast cancer are still found past age 50. So even if you have a relative, you might or might not develop breast cancer after age 50, the same as women without a family history.

What does this study mean for you? If you have relatives with breast cancer, it will hopefully ease your mind a bit. Yes, you are at a slightly greater risk, but it is not as bad as originally thought. If you have no history of breast cancer in your family, good for you!

For all of you, you should be doing monthly breast self-exams after age 20, getting an annual PAP smear and having an annual mammogram past age 40, unless some circumstance indicates that you should have it earlier. (Example: in families with a first-degree relative with breast cancer, it is generally accepted practice to have your baseline mammogram 10 years prior to the age of diagnosis of your relative. To put it in lay terms, I was 47 when I was diagnosed. According to current practice, my daughter should begin mammos at age 37, rather than the standard baseline age of 40)

Eat well, exercise moderately, avoid smoking, drink alcohol in moderation and live life to the best of your ability. Trust your instincts. You know your body better than anyone else. When it doubt, consult a doctor. Please remember that I am only a breast cancer survivor, not a medical specialist. My opinions and interpretations are mine alone and should not be construed as medical advice. I am always willing to give the patient/survivor perspective.

http://kidshealth.org/parent/system/medi...

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