Genes are the body’s building blocks.  Genes contain the “recipes” for the proteins that cells need to function normally.   If the genetic recipe contains a mistake (referred to as a genetic mutation or genetic abnormality), the mistake may cause the cells to function abnormally and in some cases, can cause cancer.

For breast cancer, specifically, there are two known gene mutations that, if possessed by an individual, he/she will have a high likelihood of developing breast cancer, as well as ovarian cancer.  These genes are referred to as BRCA1 and BRCA2 (“BR” for breast and “CA” for cancer).  Most inherited cases of breast cancer are associated with these genes.  According to Myriad Genetic Laboratories, the only company currently performing such genetic tests, women with an abnormal BRCA1 or BRCA2 gene have a 56%-87% risk of developing breast cancer in their lifetime (as compared to 8% for the general population) and a 27%-44% risk of developing ovarian cancer (as compared to <2% for the general population).

The test itself is simple – it is a blood test – and it may be covered by insurance if you have a family history of breast/ovarian cancer.  However, you must be prepared for the results.  If you test positive for the genetic mutation, you must consider what you will do with that information.  It may initially be frightening but knowledge is power and you can take action to mitigate the risk of getting cancer (or having it recur) if you have the genetic information.  You may opt for hormonal therapy such as Tomoxifen which has been shown to reduce the risk of breast cancer in some high-risk women.  Or, you may choose to have a preventive mastectomy and/or preventive removal of your ovaries (called an oophorectomy) to reduce your risk.

But if you have a BRCA1 or BRCA2 mutation and if hormonal therapy or preventive surgery are not what you choose, at very least, you should

• be religious about doing monthly self breast exams starting at age 18
• get yearly mammograms and MRIs beginning at age 25
• get a pelvic exam, as well as a transvaginal ultrasound twice a year beginning at age 35

Helping your family

BRCA1 and BRCA2 mutations are passed on through families from parent to child.  Once your specific genetic mutation has been identified, you will know that your close blood relative (parents, children, brothers and sisters) have a 50% chance of having the same genetic mutation.  More distant relative (aunts, uncles, cousins) may also have the genetic mutation.  But you can help.  If your family members wish to get tested for the genetic mutation, they will need to know your specific mutation.  The best solution is to provide a copy of your test result so Myriad can test for that specific mutation alone, at a greatly reduced cost.