| October, recognized as National Breast Cancer Awareness Month, is a good time to reflect on some sobering statistics.Specifically, more than 182,000 women will be diagnosed with breast cancer in 2008, and more than 40,000 will die from it.
Here’s another figure: 3{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5}. That’s the percentage of women with a family history of breast cancer who have been tested for the presence of a genetic mutation that dramatically increases their own risk.
The screening — a simple blood test — has been available for well over a decade. So why aren’t more women aware of it?
Dr. Steven Schonholz doesn’t have the answer to that, but he is trying to push that percentage higher.
“I go all over the place and talk to surgeons, medical oncologists, ob/gyns, any physician who sees women and knows their family history,” said Schonholz, medical director of Mercy Medical Center’s Breast Care Center. “I want them to realize how easy it is to identify women with this mutation, and how easy it is to talk with them about what the cancer risk is and what surgical treatment is available.”
The condition is called hereditary breast ovarian cancer syndrome (HBOC), and one of two genes might be involved. “There are certain people at risk for this type of breast cancer,” Schonholz said. “It occurs in younger people, and they’ve identified several red flags that alert people who should be tested.”
This month, appropriately, The Healthcare News discusses some of those red flags, and why it’s important that women — and men, in some cases — seek them out.
Clear Danger
HBOC is characterized by several features in a family, including early-age onset of breast cancer (often before age 50), family history of both breast and ovarian cancer; incidence of bilateral cancers (those that develop in both breasts or both ovaries independently); incidence of both breast and ovarian cancer simultaneously; and an increased incidence of tumors of other specific organs, such as the ovaries or prostate.
Yes, the prostate — men can get breast cancer, of course, and they can also carry the genetic mutation. Just as women with the syndrome have an increased risk of ovarian cancer, men see their lifetime risk of prostate cancer rise from 8{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5} to between 15{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5} and 20{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5}.
The discovery dates back to 1990, when DNA linkage studies on large families with the above characteristics identified the first gene associated with breast cancer, located on chromosome 17. Scientists named this gene ‘breast cancer 1,’ or BRCA1. Since it was clear that not all breast-cancer families were linked to BRCA1, studies continued, and in 1994, scientists discovered another, similar gene on chromosome 13, and named it BRCA2.
Both BRCA1 and BRCA2 are tumor-suppressor genes that usually have the job of controlling cell growth and cell death. When a person has one altered or mutated copy of either the BRCA1 or BRCA2 gene, their risk for various types of cancer increases.
The probability figures related to the syndrome are startling. The average woman, for instance, has a 2{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5} chance of contracting breast cancer by age 50; with the mutation, the odds are 50{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5}. By age 70, they rise to 87{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5}.
Other cancer rates are affected, too. If a woman with the gene has contracted breast cancer in the past, her odds of getting a second cancer by age 70 is 64{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5}, as opposed to 11{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5} for the general population. Harboring the mutation also increases a woman’s lifetime risk of ovarian cancer from 1{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5} to a whopping 44{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5}.
The relation of the gene to non-breast cancers isn’t totally clear, but Schonholz said there are hormonal factors in play; in addition, the faulty gene prevents repair of cell damage, making the body more susceptible to other cancers.
The link is so strong, in fact, that “I would tell people between 35 and 40 years old — or when they’re done having kids — to get their tubes and ovaries removed,” he said. “There is no screening for ovarian cancer to pick it up early, so the best management, if you have this gene, is to have them removed. That will reduce the risk of ovarian cancer by 98{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5}.”
Schonholz is passionate about learning the family histories, of patients, targeting likely carriers of HBOC, and having them screened — and spreading his passion to the public and as many other health professionals as he can.
“We do a lot of testing for hereditary breast and ovarian syndrome,” he said. “We try to go over the person’s history in regard to cancer, the age they had it, as well as their family history, looking for relatives who had breast cancer before age 50. The important thing about hereditary breast cancer is that it can come from the mother or the father.
“The question then arises,” Schonholz continued, “what if a parent has breast cancer and has the gene? What’s the risk of it being passed to a child? It’s a 50-50 chance.” The chance of the gene being shared with a sibling, even if a parent doesn’t have it, is also 50-50.
However, he continued, if the child of a parent with the gene doesn’t manifest the mutation herself, she and her children will have the same risks of breast and ovarian cancer as the general population.
So, clearly, he said, it’s important for someone with a family cancer history to find out early on if the gene is present, if only to help make a difficult prevention decision. Many women who test positive for the mutation at an early age actually decide to undergo mastectomies to virtually eliminate a frighteningly high risk.
Testing, Testing
Even in women who are already diagnosed with breast cancer, it’s beneficial to know whether the syndrome is present, Schonholz added, because if it is, mastectomy becomes a more likely treatment option, if only to help stave off a reoccurrence.
“If I see a 70-year-old who had breast cancer, I’ll test that person,” he said. “You don’t need a gigantic family history. If they have the criteria, I’ll test them. And in the few instances that come back positive, I’ll test the family.”
And, maybe, help bring down those all-too-dire mortality statistics a little bit at a time. |
