Small Test, Big Results!!!

Just got the good news!  I am NOT a carrier of the Breast Cancer gene!  After a week of trying to get a hold of my doctor, she called today with the blood test results.  "Your blood workup came back negative...and completely normal!"  What a relief.

Since my bout with colon cancer, and then round two of breast cancer, my medical team has been advising that I get tested.  My insurance approved it and off I went for what appeared to be a simple blood test. But this small test is HUGE...because it goes all the way down to the DNA level to see if you are a carrier of this mutation..not just in your recent family history, but way, way back.  The American Cancer Institute says it this way:


A woman’s lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2. Such a woman has an increased risk of developing breast and/or ovarian cancer at an early age (before menopause) and often has multiple, close family members who have been diagnosed with these diseases. Harmful BRCA1 mutations may also increase a woman’s risk of developing cervical, uterine, pancreatic, and colon cancer (1, 2). Harmful BRCA2 mutations may additionally increase the risk of pancreatic cancer, stomach cancer, gallbladder and bile duct cancer, and melanoma (3).


The likelihood that a breast and/or ovarian cancer is associated with a harmful mutation in BRCA1 or BRCA2 is highest in families with a history of multiple cases of breast cancer, cases of both breast and ovarian cancer, one or more family members with two primary cancers (original tumors that develop at different sites in the body), or an Ashkenazi (Central and Eastern European) Jewish background (see Question 6). However, not every woman in such families carries a harmful BRCA1 or BRCA2 mutation, and not every cancer in such families is linked to a harmful mutation in one of these genes. Furthermore, not every woman who has a harmful BRCA1 or BRCA2 mutation will develop breast and/or ovarian cancer.


According to estimates of lifetime risk, about 12.0 percent of women (120 out of 1,000) in the general population will develop breast cancer sometime during their lives compared with about 60 percent of women (600 out of 1,000) who have inherited a harmful mutation in BRCA1 or BRCA2 (4, 5). In other words, a woman who has inherited a harmful mutation in BRCA1 or BRCA2 is about five times more likely to develop breast cancer than a woman who does not have such a mutation.

As you can see, the ramifications of a positive test are many in nature.  My main concern, of course, was the possibility of being a carrier and what this would mean for my daughter, my sister, my nieces.  This is why it was/and IS so important to get tested if your doctor feels there's just cause.  My father would say, "Knowledge is power."  And I've always been one to want to know what's going on...especially within my body.  Given my medical history of breast cancer at age 34, ovarian cyst (removed as precaution since I had cancer at a young age), gallbladder surgery, colon cancer and then breast cancer again, they doctors felt there was just cause.

But this story has a happy ending!  I'm not a carrier.  And I'm breathing a sigh of relief....for my daughter, for my future grandchildren : ), for my family.  Life is good!