What to do if you have the hereditary breast and ovarian cancer gene BRCA

Hereditary breast and ovarian cancer syndrome is an inherited condition that increases significantly the risk of breast and ovarian cancer.  The disease is due to one of many alterations or mutations in either the BRCA1 or BRCA2 gene.  This mutation can be inherited from either parent.  If a person has the mutation, every one of his/her offsprings separately has a 50% chance of inheriting this problem.  Almost always, the affected family members have the exact same mutation.  A BRCA mutation increases the risk of female breast cancer up to 87%, ovarian cancer up to 44%, and male breast cancer up to 6%.  Usually, breast cancer happens early, before age 50.  Often, it is of the triple-negative type, meaning it has no Estrogen Receptor, no Progesterone Receptor, and no Her-2 neu amplification.

There are three approaches toward managing this syndrome.  Preventive surgery is by far the most effective at reducing the risk of developing these cancers.  Bilateral mastectomies with immediate plastic surgery reconstruction may be carried out, sparing both skin and nipples.  After childbearing, removing both ovaries is the most effective way to prevent ovarian cancer.  This surgery also reduces the risk of breast cancer as well.

The second approach involves chemoprevention.  This strategy is about a third to about half as effective as surgery.  Three oral drugs have been shown to reduce the risk of breast cancer, Tamoxifen, Evista and Aromasin.  Tamoxifen is a pill that interferes with the activity of estrogen, the major female hormone, throughout the body.  Evista (raloxifene) blocks the effect of estrogen on breast tissue, but mimics the beneficial effect of estrogen on increasing bone density.  Aromasin (exemestane) inhibits the enzyme aromatase that makes estrogen in the body outside the ovaries.  It cannot stop the ovaries from making estrogen, therefore it is only used in post-menopausal women.  In regards to ovarian cancer, birth control pills can provide some degree of protection.

The third approach involves intense surveillance to detect cancer as early as possible.  Monthly self breast exams are recommended starting at age 18.  Breast exams by a clinician once to twice a year should start at age 25, as well as yearly mammogram and breast MRI.  Also beginning at age 25, transvaginal ultrasound and CA-125 blood tumor marker test should be done once to twice a year to look for ovarian cancer.

The above are only general guidelines.  No two BRCA patients are exactly alike, and therefore the decision making process is different and unique for each individual person.  Regardless of any one else’s advice, you should make the choice that you personally will be able to live with for the rest of your life.