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
I first saw the article Thursday night on Facebook, then stayed up until midnight reading it. In a helluva story, Peggy Orenstein addresses The Feel-Good War on Breast Cancer in this Sunday’s New York Times Magazine.
Orenstein is uniquely situated to write an article she hopes will “help change the national conversation.” She’s been treated for breast cancer twice in the last 15 years, including a mastectomy last fall, and the Times Magazine — for which she writes regularly — is one of the most powerful publications in the world.
Orenstein was first diagnosed with breast cancer in 1997 after her doctor sent her for a screening mammography. “I used to believe a mammogram saved my life,” she writes as the opening line of her piece. Today, she’s not so sure.
As she writes in the Times:
Sixteen years later, my thinking has changed. As study after study revealed the limits of screening — and the dangers of overtreatment — a thought niggled at my consciousness. How much had my mammogram really mattered? Would the outcome have been the same Continue reading
(Photo: U.S. Navy)
As women are well aware, the purpose of a mammogram is to screen for cancer. What many women don’t know is that as part of the screening, radiologists also assess the level of density in a woman’s breast tissue.
Starting Monday, a new California law will require that doctors notify women if their breast tissue is dense. Dense breast tissue makes it harder to read mammograms and is associated with an increased risk of breast cancer.
Former state Sen. Joe Simitian (D-Palo Alto) introduced the law last year. It grew out of his concern that while doctors were aware of a patient’s breast density, the patient herself was not, preventing women from talking with their doctors about how they might want to address their potential increased risk. He wanted to change that.
“The fundamental premise of the legislation,” he said in a recent call with reporters, “is that absent this information, these conversations weren’t going to take place.”
Some background: breast tissue is graded from 1 (not dense) to 4 (extremely dense). The law requires that women graded either a 3 or a 4 be notified.
Here’s the specific notification required by the law:
Your mammogram shows that your breast tissue is dense. Dense breast tissue is common and is not abnormal. However, dense breast tissue can make it harder to evaluate the Continue reading
(Photo: U.S. Navy)
As everybody knows by now, how frequently a woman should have a mammogram is a topic of hot debate in the U.S. In particular, women in their 40s have been troubled by recommendations almost four years ago from the U.S. Preventive Services Task Force that mammograms are not routinely recommended for them. Instead, the decision is an “individual one” that a woman can make, presumably in conversation with her doctor.
Now, a new study has a tailored recommendation. For women in their 40s with “extremely dense breasts,” annual screening will reduce their risk of being diagnosed with advanced stage breast cancer.
“There is this sub-group that is higher risk and has more aggressive tumors,” said lead researcher Karla Kerlikowske, an epidemiologist and biostatistician at UCSF. “Annual mammography is probably better for that group.”
To date, most recommendations have relied on one risk factor: age. A woman’s risk of breast cancer increases as she gets older. But there are other risk factors, too, like breast density. About 12 to 15 percent of women in their 40s have “extremely dense breasts.” Radiologists categorize breast density on a scale of 1 to 4, and a score of 4 is “extremely dense.”
By Richard Knox, for NPR and Kaiser Health News
It’s a startling finding: Many women with cancer in one breast are choosing to have their healthy breast removed, too.
But a study being presented later this week says more than three-quarters of women who opt for double mastectomies are not getting any benefit because their risk of cancer developing in the healthy breast is no greater than in women without cancer.
Double mastectomy “does not make sense” for about three-quarters of the women who are choosing the operation.
“People want absolute certainty,” breast surgeon Monica Morrow of Memorial Sloan-Kettering Cancer Center tells NPR’s Shots blog. “Unfortunately, even having a double mastectomy doesn’t provide certainty that breast cancer will not recur. So it’s a false sense of security.”
Morrow is a co-author of a paper that will be presented at the American Society of Clinical Oncology’s Quality Care Symposium in San Diego.
Another co-author, Sarah Hawley, of the University of Michigan, says double mastectomy “does not make sense” for about three-quarters of the women who are choosing the operation “because having a non-affected breast removed will not reduce the risk of recurrence in the affected breast.” Continue reading
View of Marin County from Mt. Tamalpais. (Flickr: Steve Mohundro)
Let’s start out with the disclaimers — first, this small study — just 338 samples — has to be proven in a larger study. Second, even if true, we are years away from seeing new treatments.
Still this new research from UCSF is intriguing to say the least. Researchers at UC San Francisco looked at cell samples from women shown through previous testing to be at higher risk of breast cancer. They found that those women were almost twice as likely to have a genetic variation involving a vitamin D receptor. The research was published online earlier this week and will be in the November print edition of the Journal of the American College of Surgeons.
Marin County has one of the highest rates of breast cancer in the world. A 2003 study found that the land in Marin was not a factor — a woman’s risk of developing cancer did not go up if she lived longer in Marin County. In conducting that study, researchers had used cell samples taken from the mouths of women — half the women had breast cancer, half did not. Those samples were kept frozen after the study was complete. Continue reading
(Seattle Municipal Archives: Flickr)
Desiree Basila was 52 when her stage zero breast cancer — also called ductal carcinoma in situ — was diagnosed. While her cancer was found very early, she was ultimately diagnosed with the disease in both breasts. In addition, it was found in several locations. For Basila, doctors said her only realistic treatment option was double mastectomy — which Basila opposed. “If I die at 75 instead of 95 I think I can live with that,” she told me recently. “I did not really want to have a double mastectomy.”
Basila is strong evidence that individuals react differently to their treatment choices. The new healthcare buzzword is the engaged patient, generally referring to someone who is collaborating with doctors in the decision-making process and, conversely, where a patient’s individual preferences are respected.
Basila became just such an engaged patient. After a cancer diagnosis, people usually have a few weeks to investigate treatment options, options that may be life altering. While Basila had little prior experience with cancer, she had been a science teacher and put her skills to use, digging into the research. She sought a second opinion at UC San Francisco and discovered a new Continue reading
(Photo: U.S. Navy)
It’s hard to believe that a one in a hundred risk of something bad happening would generate so much heated debate, but that’s where we’re at when it comes to the question of mammograms for women in their 40s. Since breast cancer is a disease which risk increases with age, the clear cut off point for mammography has been age 50. Mammography will find cancer in women in their 40s, but will carry a much higher risk of false positives.
Specifically, a 40-year-old woman has a 1.5 percent chance of developing breast cancer at some point during her 40s. The 1-in-8 chance repeated so frequently is over a lifetime — up to age 80.
While mammography is the best tool we have in detecting breast cancer, it’s not a perfect test. Mammograms will pick up abnormalities that are not breast cancer. The problem is that doctors can’t say definitively these abnormalities are benign without further testing. Sometimes that means having an additional mammogram, sometimes women must then have a biopsy. In the meantime, many of these women are worrying. Continue reading
(Brandi Korte: Flickr)
It was only Tuesday when news broke that Susan G. Komen would cease its funding of Planned Parenthood for breast cancer screening and other programs.
In the days since, reaction has been swift and heated. Komen said it had new funding guidelines that prohibit the foundation from funding groups under investigation. While a Republican member of Congress has announced an intention to hold hearings of Planned Parenthood, critics say the intent is political. Hearings have yet to be held.
Today, Nancy Brinker, Founder and CEO of the Foundation announced what at first appeared to be a reversal and explained in a statement published on their website: Continue reading