In this morning's NY Times, Angelina Jolie writes about her decision to have a preventive double mastectomy to hopefully ward off cancer.
My mother fought cancer for almost a decade and died at 56. She held out long enough to meet the first of her grandchildren and to hold them in her arms. But my other children will never have the chance to know her and experience how loving and gracious she was.
We often speak of "Mommy's mommy," and I find myself trying to explain the illness that took her away from us. They have asked if the same could happen to me. I have always told them not to worry, but the truth is I carry a "faulty" gene, BRCA1, which sharply increases my risk of developing breast cancer and ovarian cancer.
It happens that just last night I read about the BRCA-1 gene in Siddhartha Mukhergee's excellent biography of cancer, The Emperor of All Maladies. This part is right near the end of the book:
Like cancer prevention, cancer screening will also be reinvigorated by the molecular understanding of cancer. Indeed, it has already been. The discovery of the BRCA genes for breast cancer epitomizes the integration of cancer screening and cancer genetics. In the mid-1990s, building on the prior decade's advances, researchers isolated two related genes, BRCA-1 and BRCA-2, that vastly increase the risk of developing breast cancer. A woman with an inherited mutation in BRCA-1 has a 50 to 80 percent chance of developing breast cancer in her lifetime (the gene also increases the risk for ovarian cancer), about three to five times the normal risk. Today, testing for this gene mutation has been integrated into prevention efforts. Women found positive for a mutation in the two genes are screened more intensively using more sensitive imaging techniques such as breast MRI. Women with BRCA mutations might choose to take the drug tamoxifen to prevent breast cancer, a strategy shown effective in clinical trials. Or, perhaps most radically, women with BRCA mutations might choose a prophylactic mastectomy of both breasts and ovaries before cancer develops, another strategy that dramatically decreases the chances of developing breast cancer.
Radical is an understatement...what a tough and brave decision to make. Again from the book, I liked this woman's take on it:
An Israeli woman with a BRCA-1 mutation who chose this strategy after developing cancer in one breast told me that at least part of her choice was symbolic. "I am rejecting cancer from my body," she said. "My breasts had become no more to me than a site for my cancer. They were of no more use to me. They harmed my body, my survival. I went to the surgeon and asked him to remove them."
The genetic testing company 23andme screens for three common types of mutation in the BRCA1 or BRCA2 genes:
Five to 10 percent of breast cancers occur in women with a genetic predisposition for the disease, usually due to mutations in either the BRCA1 or BRCA2 genes. These mutations greatly increase not only the risk for breast cancer in women, but also the risk for ovarian cancer in women as well as prostate and breast cancer among men. Hundreds of cancer-associated BRCA1 and BRCA2 mutations have been documented, but three specific BRCA mutations are worthy of note because they are responsible for a substantial fraction of hereditary breast cancers and ovarian cancers among women with Ashkenazi Jewish ancestry. The three mutations have also been found in individuals not known to have Ashkenazi Jewish ancestry, but such cases are rare.
23andme testing kits are only $99.
Update: Two things. First, and I hope this isn't actually necessary because you are all intelligent people who can read things and make up your own minds, but let me just state for the official record that you should never never never never NEVER take medical advice, inferred or otherwise, from celebrities or bloggers. Come on, seriously. If you're concerned, go see a doctor.
Two: I have no idea what the $99 23andme test covers with regard to BRCA1 and BRCA2 gene mutations beyond what the company states. The most comprehensive test for BRCA1 and BRCA2 mutations was developed by a company called Myriad Genetics and costs about $3000. Myriad has patented the genes, a decision that has been sharply criticized and is currently being decided by the Supreme Court.
But many doctors, patients and scientists aren't happy with the situation.
Some are offended by the very notion that a private company can own a patent based on a gene that was invented not by researchers in a lab but by Mother Nature. Every single cell in every single person has copies of the BRCA1 and BRCA2 genes.
Myriad officials say they deserves the patent because they invested a great deal of money to figure out the sequence and develop "synthetic molecules" based on that sequence that can be used to test the variants in a patient.
"We think it is right for a company to be able to own its discoveries, earn back its investment, and make a reasonable profit," the company wrote on its blog.
I do know the 23andme test covers something related to the BRCA1 and BRCA2 mutations...a friend of a friend did the 23andme test, tested positive for the BRCA1 mutation, and decided to have a preventive double mastectomy after consulting her doctor and further tests. (thx, mark, allison, and ★spavis)