Welcome to the Breast Cancer Surgery Center's third article for the women of Harford County. We appreciate the opportunity to share with you how to maximally protect yourself from breast cancer, that disease which awaits one out of every seven of you. If there is additional, different, or clarifying information which we can provide in this series, please contact us through Women'sI.com. or directly at BreCanSurCen@aol.com.

      This issue's article involves genetic testing, what it is, how it is done, how it helps in decision making, and which women benefit by it. The Breast Cancer Surgery Center has a certified Cancer Risk Educator qualified to counsel and test women for genetic mutations which affect the risk of breast and ovarian cancer, both of great concern to women.

      For now, we will concern ourselves primarily with breast cancer. Most breast cancers are sporadic, that is not caused by our influenced by an abnormality in the chromosomes which you have inherited. Over 90% of breast cancers are sporadic while roughly 10% are familial. Several mutations, or changes in the genetic code, have been identified which clearly affect a woman's risk of developing breast cancer.

      Remember in biology class how cells divide. The chromosomes (DNA) duplicate themselves and each new cell has the same chromosomes as the original. Many times, mistakes are made and one of the new cells has a different sequence of genes! Our cells have "repair" genes which either fix the error, or destroy the new cell so it cannot further replicate. If your repair gene is "broken" (mutated) you cannot fix the mistake and if the mistake is one which makes it easier for cancer to develop (called a deleterious mutation), your risk is elevated, sometimes by as much as 90%!

      This "broken" chromosome can be passed from parent (yes, from your father, too) to child, causing all of the offspring who inherit the mutation to have an increased risk of breast cancer. The most common mutations can be sought out and identified using a blood test called "gene sequencing". This expensive test is paid for in part by nearly all insurances, but only for those women who qualify by having a "mutation risk" of greater than 10%.

      Your mutation risk is calculated from a chart where the input is your personal history and your family's history of breast (and ovarian) cancer. Three generations are examined and a "pedigree" is created. Occasionally you need to contact distant relatives, or the hospital where an elderly aunt died to obtain accurate information. The mutation risk charts are continually updated and are obtained by the Breast Cancer Surgery Center at the time of your counseling. Remember, you do NOT have to have had breast cancer yourself to be tested. In fact, we want you to check out your family history and be tested BEFORE you ever develop the disease.

      If your mutation risk qualifies you to have blood drawn for gene sequencing, the information gained can be used to prevent, or detect earlier, any cancers for which you may be at risk. The first intervention is increased surveillance. By this we mean more frequent physical exams, additional imaging modalities such as ultrasound or MRI, and the use of "ductal lavage". This promising (and NOT experimental) technique has been shown to detect cancer 3 years before it shows up on your mammogram, which is usually 6 - 12 months before it is noticeable on physical exam. The BCSC is one of only around 200 sites in the Nation to perform this diagnostic modality.

      The second intervention used by women with deleterious genetic mutations is chemoprevention. Medications which are used to treat breast cancers can also significantly lower the risk of developing cancer by as much as 44%. Among these are tamoxifen and Arimidex. Literature on each of these medications is available at the BCSC.

      Lastly, some women find that prophylactic surgery offers for them the best approach to defending against breast cancer. This usually involves removal of the breast tissue before cancer strikes. In many women, a nipple-sparing approach can be used. For some mutations, the risk of developing ovarian cancer is also extremely high. For these women, surgery which removes the ovaries (done laparoscopically) reduces the risks of both breast and ovarian cancer to acceptable levels.

      As with any medical test, the results should guide your treatment plan. If no change is going to take place, no matter what the test results show, then the test should not be performed. This is especially true for an expensive test like gene sequencing. Therefore, it is part of the counseling process for the patient and doctor to decide whether increased surveillance, chemoprevention, or prophylactic surgery will be undertaken if the test is positive and not used if it is negative.

      For some women, increased surveillance just makes sense and will be utilized in any case. If she is definitely against chemoprevention or prophylactic surgery no matter what the result of the testing is, then the test can not be performed. Counseling is all-important in this process. Testing does not stand alone but is simply an adjunct to the counseling.

      There are several "rules of the road" concerning genetic testing. For instance, it may be tempting to want to tell the offspring of your sister if your test is positive, but if the children are under 18, their parent's wishes must be followed, despite your good intentions.

      Genetic testing is confidential and your employer or insurance company cannot obtain either the results of your test, or even that you had it performed. Even though the actual test is paid for by 90-95% of health insurance companies, the "counseling" portion is NOT. The Breast Cancer Surgery Center is concerned that you do not spend money uselessly. We have, therefore, divided the counseling into three sessions. The first is only 20-30 minutes and costs only $60.00. We can frequently find out that you do not need testing and do not need to continue the process. If your risk qualifies you, the second counseling session is 50-60 minutes and costs $120.00. If you choose to be tested, the third session, when the results are discussed, is free.

      In the next issue we will describe the details of ductal lavage, since it is very likely to assist high-risk women in finding all cancers at a curable stage!