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