Peter Hibberd, M.D., is a doctor whose advice is based on more than 28 years of hospital outpatient and inpatient experience. He is an experienced emergency medicine physician, surgeon, and consultant. Dr. Hibberd is certified by the American Board of Emergency Medicine. He is also a fellow and active member of the American Academy of Family Physicians, an active member of the American College of Emergency Physicians, and a member and fellow of the American Academy of Emergency Medicine. Dr. Hibberd has earned numerous national and international professional certifications, memberships, and awards.
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Should I Have the BRCA Test?

Friday, 04 Dec 2009 11:00 AM


Question: I have been hearing a lot recently about the BRCA test to determine if women are at risk for breast or ovarian cancer. Two of my aunts have cancer (lung and ovarian), my mom had two brain tumors (successfully treated) and my dad has multiple myeloma. I have two sisters who are healthy. I am 48 years old and I am worried about my chances of developing cancer. (I also have fibrocystic breasts.) Should I take the BRCA test to determine if I’m at risk for breast or ovarian cancer?

Dr. Hibberd's Answer:

You definitely have a family history of malignancy, but despite your fibrocystic disease, and assuming you are not of Ashkenazi Jewish descent, your BRCA tests are statistically most likely to be negative. Hopefully you are not a cigarette smoker, as your risks may be higher if you are. Knowledge of your BRCA1 and BRCA2 status will probably help ease your concerns. Mutation of these genes is linked to hereditary breast and ovarian cancer. A women's risk of developing breast or ovarian cancer is greatly increased in women who have inherited a harmful BRCA1 or BRCA2 mutation. Cancers of the pancreas, cervix, uterus and colon are also increased in BRCA1 mutations. BRCA2 mutations are also associated with cancer of the pancreas, stomach, gallbladder, bile ducts and melanoma.

The gene test for BRCA genes is performed on a blood sample. If the test(s) is positive, you will need genetic counseling. Not every woman with these mutations will develop breast and/or ovarian cancer. The lifetime risk for breast cancer in women is 12 percent. Of those who are gene positive 60 percent will develop breast cancer...... a five-fold greater risk than average! But remember that BRCA mutations account for only 5-10 percent of breast cancers. Lifetime risk for ovarian cancer is 1.4 percent. Of those who are gene positive, 15 to 40 percent will develop ovarian cancer. BRCA mutations account for 10 to 15 percent of ovarian cancers in Caucasian women.

I feel that many of us wish to hide from risk. If you prefer not to know or you would do nothing with the results but worry, do NOT get these tests done. If you are very proactive, and would plan on aggressive measures such as an oophorectomy or bilateral preventative mastectomy, you may be able to justify doing these tests, especially if you have an Ashkenazi Jewish ancestry. With no such ancestry, your family history pattern has an otherwise low probability of a BRCA1 or BRCA2 mutation.

Family history patterns which increase risk of positive mutation discovery in women not of Ashkenazi Jewish descent are:
1) TWO first degree relatives (mother, daughter, sister) with breast carcinoma, one under the age of 50
2) THREE or more first or second degree relatives (grandmother or aunt) with breast carcinoma at any age
3) Combination of first and second degree relatives each with breast carcinoma or ovarian carcinoma
4) Bilateral breast carcinoma in a first degree relative
5) Two or more first or second degree relatives with ovarian carcinoma
6) A first or second degree relative with both ovarian and breast carcinoma at any age
7) Any breast cancer in a male relative

Family history patterns which increase the risk of positive mutation discovery in women of Ashkenazi descent are:
1) ANY first degree relative with breast or ovarian carcinoma
2) TWO second degree relatives on the same side of the family with breast or ovarian carcinoma

So, here's to your health. You have the information. Now I suggest you ponder over this, then go discuss your situation with your physician. In the end it needs to be your decision.







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