Cancer...the Gift that Keeps on Giving

As you all know, I was diagnosed with ovarian cancer in May 2005 at age 53 (average age for diagnosis is mid 70's) and Mom was diagnosed with breast cancer in 2006. Because of these, Mom's oncologist decided it would be important for Mom to have a comprehensive BRCA analysis. BRCA1 and BRCA2 are two genes that have been identified as being responsible for an increased risk for breast and/or ovarian cancer. We went with a genetic counselor and an oncologist to go over family history. Because this test was being done on Mom, no information about my Dad's (Smith/Shanahan) side of the family was discussed, since Mom and Dad aren't blood relatives. The information she shared was based solely on the Boocock family tree and of course my sisters and me. Because the number of relatives on Mom's side met their criteria, Mom's test was covered by insurance. The criteria includes the number of "close" relatives diagnosed and their age at time of diagnosis. The test itself is a simple blood draw. Today Mom and I met again with the counselor and oncologist to go over the results. Mom tested positive for BRCA2. This may explain my ovarian cancer.
This means that someone (before Mom) also had this gene and passed it along to her. It also means that Mom's sisters (Doris and Marion) also have the SAME chance of carrying this gene. The implications for ALL (male and female) the relatives is obvious. Someone whose parent is positive has a 50% chance of passing that gene down to their children. So, as the Dr. said that means that you might expect 2 of the 4 children Mom had would be BRCA positive. However, those are the "typical" results. It's like she said if you are flipping a coin, you have a 50% chance it will be heads. However, you could flip that coin 4 times and get all heads or all tails or some of each. So, all 4 of us could be positive, or negative, or some of each. I probably am positive also, which would explain my diagnosis.
The point of this long ramble is this--having a BRCA1 or BRCA2 mutation increases the risk of certain cancers. In the general population, the chance of getting breast cancer is about 2%. With the BRCA mutation, that rate raises to 33-50%. The risk of ovarian cancer is <2% in the general population. With the BRCA mutation the risk rises to 27-44%. For men, the risks are not as significant, but there is an increased risk for prostate and pancreatic cancer.
What Can You Do?
Know this information!!! Knowledge is power! Without testing, Marion, Doris and all their children as well, are at risk. We are all related! Discuss this information with your doctor, to determine if you should pursue testing. We now know the specific mutation Mom has--that can mean that depending on your family history, the testing can be what is called a single site analysis (much cheaper--still covered by most insurances) that can check for the same mutations. Be hyper-vigilant--make sure you do monthly breast self exams, and.or breast MRI's. Insist on yearly CA-125 tests and/or transvaginal ultrasounds to screen for ovarian cancer. There are also drugs and or preventative surgeries that can be used if they are called for. Your health care provider can best assist you in determining whether you should consider genetic testing.
And attention Smith/Shanahan relatives---I will be getting tested too--which will uncover any potential increased risks passed down from my Dad's side of the family that may affect you. We do know that Uncle Arthur died way too young of pancreatic cancer, and my Dad had prostate cancer, as well as Grammy and Grampa Smith both having dealt with cancer. I will share any information I get regarding that side of the family.
Sorry this isn't the usual "funny" blog post. But, we all need this information. Please share it! Cancer..the gift that keeps on giving-whether you want it or not!
Nancy