Wednesday, December 10, 2008

Who should Get Genetic Testing?





I have had a few people ask me lately about genetic testing. I think this is such a relevant topic because so much of the research into the causes of breast cancer and other diseases is centering around genetics with the discovery of the human genome. The human genome is a project which mapped out all of the DNA in the human body. As a result, we know what some genes look like.
In breast cancer, there are two known genetic mutations. They are the BRCA1 and BRCA2 genes. They account for approximately 10%-15% of breast cancers(depending upon your source of information). Carriers of these genes have as high as an 85% chance of developing breast cancer. There are certain people in the general population who are at higher risk for carrying on of the genes. They are:
-Women or men with several relatives with breast cancer
-Women or men with relatives diagnosed with more than one primary breast cancer
-Women or men who have a relative with ovarian cancer
-Women or men with Ashkenazi Jewish heritage
-Women or men who have a male relative with breast cancer
Women and men can both carry and inherit the gene. For example, my friend found out she had the BRCA1 gene which she inherited from her father. Her aunt, her father's sister had breast cancer. He passed the same genetic mutation that his sister had onto his daughter. She had her children and then decided to have a prophylactic bilateral mastectomy and an ooperectomy to mitigate the risk of breast cancer in her future.
Should I get genetic testing? My situation falls a little bit into the gray area here. My brother had colorectal cancer when he was thirty eight and I was diagnosed with breast cancer when I was forty four. Do we have BRCA1 or BRCA2? I will let the genetic counselors make the call on that. What we probably have is some genetic mutation that has yet to be discovered so they may not recommend testing at this time because the test runs approximately $3,000. The insurance companies don't really want to pay for someone who is not considered to be high risk to have the test.
If you are concerned about a strong family history of breast cancer and the possibility of carrying one of the genes, I would suggest that you talk to your gynecologist about the likelihood that you are a carrier. They know your individual situation best and can steer you in the right direction.
As for me, I am going to fill out the paperwork and hope for the best. I would like to know if I am a carrier primarily for the sake of my children and their future.

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