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Hello! Question about BRCA/Genetic Testing

jordannicole
Posts: 1
Joined: Sep 2013

Hello everyone! First, i have been reading through some of these posts and am in awe of the support here! I guess I should explain a little... I am 27 year old woman with no children. I have been diagnosed with ovarian cysts in the past (age of 15) but have been on birth control consistently for the past 3 years. I have a pretty extensive history of cancer on the paternal side of my family, as follows:

Paternal Granddfather - Colon Cancer - 73 (in remission for approximately 12 years)

Paternal Great Uncle - Colon Cancer  - 75 (died from the disease)

Paternal Aunt - Ovarian Cancer  - 52 (in remission for approximately 10 years)

Paternal Aunt - Breast Cancer - 49 (in remission for approximately 2 years)

Paternal Cousin - Breast Cancer - 40 (just finished up chemo about 6-12 months ago, currently in remission)

Based on this history, I was almost certain we have some sort of gene mutation. I spoke with my gynecologist, and she referred me to a genetic counselor, who asked that i inquire from my aunts or cousin as to whether they completed BRCA testing. I did, and they informed me that they did were all tested, did not have the BRCA gene, and are currently testing for Lynch Syndrome (sometime in the fall). They said that their oncologists believe there is a gene mutation, but that it possibly hasnt been pinpointed yet, or there isnt yet a test available.

So, my question would be, even if i dont have the specific BRCA mutation, it seems i would be at a higher risk based on the family occurence? Everytime I feel a pain in my ovaries, or feel bloated, the thought of ovarian cancer crosses my mind. I know the risk is minimal for my age, but I am certainly more at risk due to my family history. I do go yearly to my gynecologists, but am wondering if I should be getting specific blood tests/cat scans/ultrasounds in order to be better prepared for the possibility of getting a cancer diagnosis (perhaps on a yearly or semi-annual basis).

Any information or suggestions would be helpful!

Alexandra's picture
Alexandra
Posts: 1198
Joined: Jul 2012

Is your father available for BRCA testing? If he is BRCA-negative and there is no history of cancer on your mother's side - you are also BRCA-negative. If he is not available or not willing - get tested yourself. You have enough family history for the insurance to pay for the test. If you're BRCA1 or BRCA2 negative - you have the same risk of breast and ovarian cancer as the general population, which is rather low and you can put it out of your mind for another 30 years. Risk is not non-existent but minimal at your age. You can not spend your whole life being scared of cancer.

In my case I got tested for BRCA after I was diagnosed with ovarian cancer. I am BRCA1+. I had my daughter tested and she is BRCA1-. My mom got tested and she is BRCA1-, which meant that I inherited it from my now deceased father.

There is no screening today for ovarian cancer. Maybe they will invent something down the road. Blood test CA125 creates false positives and is not done for screening but only once ovarian cancer is suspected and diagnosed. Ultrasound (pelvic / transvaginal) is not a good tool for it either. CT scan can diagnose ovarian cancer when it is still in early stage, but it's expensive and the equivalent of 400 X-Ray in radiation. No one will do it routinely to a 27-year-old woman.

I can understand why you are concerned with all that family history. Make sure you get your annual pap smear (screens for cervical cancer) and your annual physical and report all unusual symptoms to the doctor.

Good luck to you,

Alexandra

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