Friend: Did you hear the news?!!?!
Me: No, I never read the news. What’s up? Another terrorist attack in the US?
Friend: No…Angelina Jolie had a preventative mastectomy. I guess it reduced her risk of breast cancer from like, 87% to 5% risk. She had a mutation in BRCA…or something like that. What is BRCA, anyway?
Almost one week ago, Angelina Jolie wrote an op-ed published in the New York Times detailing the reasoning behind her difficult decision to have a preventative double mastectomy. Unfortunately for Jolie, devoted mother of six, genetic testing revealed that like her own mother who died at age 56 from ovarian cancer, she also carries a mutation in the BRCA1 gene.
The BRCA1 gene encodes a protein that has numerous functions in normal cells, but plays a major role in repair of DNA double-strand breaks. Double-strand breaks are a particularly dangerous form of DNA damage that can lead to genomic rearrangement. But how exactly does this lead to breast and ovarian cancer?
Imagine that you have a gene which tells your cells to stop growing, we will call it STOP. No imagine you have another gene that tells your cells to GO, but this gene is normally “turned off” by biochemical mechanisms. It is possible that if both of these genes were damaged (by sun, smoking, or other insults to DNA) they could either A) get repaired normally by your intelligent, DNA repair machinery or B) get repaired incorrectly, and create a DNA fusion where the GO “switch”, aka the gene promoter, could fuse to the STOP gene. The effect would be that the STOP gene is “turned on”….and cells would now grow under this new regulation.
When BRCA1 is mutated, you have over 80% risk of being victim to the “B” type to DNA repair and subsequent breast cancer by age 90.
Jolie’s honest, forthright story has undoubtedly raised awareness about available genetic testing. These tests can potentially save the lives of women with a family history of breast and ovarian cancer. However this is only possible for women with $3000 to cover the genetic testing, followed by many more thousands for breast reconstruction…right?
Not necessarily. At least for women in the US, the health care reform law’s recent policies require private insurers to cover BRCA1 testing. Importantly, most insurance companies will not cover the test for woman who are not at an increased risk, but this makes sense. The results from such test are often unclear and could lead to unneeded surgery or treatment.
So…now the real question…should you get tested for BRCA1 if you have a family history? Is your health (and life) worth it?
Yes, you should. But that doesn’t mean you’re off the hook…
To muddle the situation further, not all breast cancers are heritable. Straight hereditary factors only account for about 10 percent of all breast cancers. In families with a HERstory of breast and ovarian cancer, about half do not have BRCA mutations at all. Breast cancer has also been positively linked to many other genetic mutations including TP53, PTEN, STK11/LKB1, CDH1, CHEK2, ATM, MLH1, and MSH2 and many others.
To decrease your risk of getting breast cancer, whether the heritable kind or otherwise, it is advised to get annual mammograms, do routine breast exams, don’t smoke, eat heathy, and exercise regularly.
How do you feel about Angelina’s brave move? Do you also have a family HERstory?