By Michelle Andrews for Kaiser Health News and NPR
Angelina Jolie’s decision to have a double mastectomy after genetic testing has prompted a discussion about which other tests should be covered. (Gage Skidmore/Flickr)
When it comes to inherited genetic mutations that increase the risk of breast cancer, BRCA1 and BRCA2 get nearly all the attention.
Inherited mutations in these genes cause from 5 to 10 percent of breast cancers as well as up to 15 percent of ovarian cancers, according to the National Cancer Institute.
There are other, rarer genetic mutations that also predispose women to breast cancer.
Other genes besides BRCA1 and BRCA2 may have mutations that predispose a woman to breast cancer.
Health insurers that cover BRCA-related testing and treatment without a hitch sometimes balk at providing coverage in these other instances. The predictive value of some of those variations isn’t always as strong or clear-cut.
When Angelie Jolie said earlier this month that she’d tested positive for a particularly harmful BRCA1 mutation and had a double mastectomy to substantially reduce her risk of getting breast cancer, she didn’t mention her insurance coverage. Continue reading
The first thing you need to know about the BRCA gene is that you have it.
Don’t panic. Everyone does. In fact, we all have two of them — the BRCA1 and 2 genes. They are normal genes that “have an important function in the cell. They are involved in repairing DNA damage,” explained Dr. Robert Nussbaum, a medical geneticist at UCSF. “When they’re functioning normally, they do a good job for us.”
We all have two copies of the BRCA genes. Men, too.
The problem is what happens when they don’t function normally. We’ll get to that in a minute. But first, in our call, Nussbaum gave me a helpful primer in basic genetics.
For starters, we all have two copies of each of the BRCA genes. Men, too. We get one copy from each parent. These genes are “like sentences,” Nussbaum said. ”They are made up of words.” When they’re spelled right, all is well.
But “you can have all kinds of misspellings,” Nussbaum said. “Red becomes reed. All kinds of things can happen that will alter the meaning of that sentence.” Continue reading
(Foreign and Commonwealth Office/Flickr)
Angelina Jolie lit up social media Tuesday morning with her announcement that she recently had a preventive double mastectomy. She took this route, she says, because she carries a specific BRCA1 mutation — putting her at an 87 percent risk of developing breast cancer and a 50 percent risk of ovarian cancer. You can read everything about her history in her New York Times piece, “My Medical Choice.”
But the key here is a specific BRCA1 mutation. There are many different mutations that can occur in the BRCA gene. Jolie is very careful to walk through all her personal decisions stemming from her unusually high risk, but emphasizes that “the risk is different in the case of each woman.”
About 10 percent of all breast cancers are due to those many BRCA mutations. Dr. Otis Brawley, chief medical officer with the American Cancer Society, explains in more detail what individual women should consider, in a response to Jolie’s piece:
This does not mean every woman needs a blood test to determine their genetic risk for breast and/or ovarian cancer. What it does mean is women should know their cancer family history and discuss it with their regular provider. If appropriate, they should be referred to and have the opportunity to discuss their risk and their options with a genetic specialist. Continue reading