These genes do the coding for proteins which suppress tumor function. When they mutate, they don't allow the protein to stop tumors. Women who have this mutation are at greater risk of developing breast or ovarian cancer.
The scientific community has ascertained that hundreds of years ago a DNA mutation occurred in a community of Ashkenazic Jews. The estimate states that 1 in every 50 Ashenazic Jews carries a mutated copy of BRCA1 or BRCA2. There are several mutations that can happen in these two genes, but the specific mutations found in this Jewish population have not been found in anyone outside of the Ashkenazic community. These women have an 85% risk of developing breast cancer, compared to the 12% of the general public.
There is a commercial blood test that can determine if you carry a mutated BRCA1 or BRCA2 gene. But what do you do with this information? Who will help you interpret it and deal with whatever the results are? Are there any drawbacks to genetic testing? Who should be tested?
The fact that you are a woman, and as you grow older, increases your risk more than that of men. But some women are at greater risk. You fall into this category if you have a personal history of breast or ovarian cancer, have had 2 close family relatives with cancer, had a family member with early breast cancer (pre-menopause), have a family member with more than one type of breast or ovarian cancer or if there is a history of breast or ovarian cancer in more than one generation of your family. Ashkenazic Jewish women have a far greater risk factor.
So what do you do? It is generally thought that you should have a cancer risk assessment and counseling by a trained genetic counselor, either with or without genetic testing. The counselor will take a detailed family history, medical record and lifestyle patterns, will provide risk assesment, discuss early detection and prevention options and tell you the risks and benefits of genetic testing.
Let's use me as an example - I had breast cancer. There is no family history of breast cancer. I don't fit into the high risk group. But I have a daughter. Should I or she be tested? Usually, they want to test the person who has/had breast cancer first to see if there is a genetic mutation. If there isn't, my daughter's chance of developing breast cancer is the same as the rest of the female population. But if it is found that I have a mutation, what does that mean for my daughter? Should she be tested? JUST HAVING A MUTATION DOESN'T GUARANTEE THAT YOU WILL GET BREAST CANCER. But what do you do with the information? Since there are no national laws guaranteeing your medical privacy, it is possible that you could be discriminated against for insurance or employment. Many breast cancer groups are fighting for legislation that would safeguard your rights, but as of now, this is not written in stone.
 |
Go To Page: 1 2
