Showing posts with label brca. Show all posts
Showing posts with label brca. Show all posts

Thursday, May 10, 2018








Five years ago, Ms. Angelina Jolie elected to proceed with prophylactic double mastectomy after undergoing genetic screening and learning that she had a significantly elevated risk of developing breast cancer due to mutation of the BRCA1 gene. As a member of her surgical team, I was deeply moved by her courage and benevolence as Ms. Jolie shared with the world her journey through mastectomy, breast reconstruction and recovery.
Today, her story continues to inspire increasing numbers of high-risk women to undergo genetic screening. A greater number of women are now aware of the concept of preventative mastectomy and reconstruction. The media has dubbed this the "Angelina Jolie effect." To me, it is an ongoing source of inspiration and an example of how one woman has made such a tremendously positive impact upon the lives of others.
I have personally seen women whose lives were likely saved as a result of the public awareness that has resulted from the "Angelina Jolie effect."
During the past five years, breast cancer risk assessment has continued to evolve. Today we understand that BRCA mutations are only two of many mutations that significantly elevate breast cancer risk. Multi-gene panels now assess for a variety of mutations – including those affecting the CHEK2, PALB2, PTEN and TP53 genes, as well as many others. Identification of these gene mutations help to assess breast cancer risk during a woman's lifetime.
We now recognize a number of factors in one's personal and family history that might make genetic testing advisable. These include:
  • Personal history of breast cancer, including bilateral breast cancer or diagnosis of triple negative breast cancer by age 60
  • Personal history of ovarian cancer
  • Family history of breast cancer before age 50 in two or more close relatives, including a mother, sister or daughter
  • Close relatives of Eastern European Jewish ancestry who have a history of breast, ovarian or pancreatic cancer
  • A close male relative with breast cancer
Breast cancer risk drops by approximately 90% among women who undergo prophylactic mastectomy. However, it is important to consider both the major and very personal nature of this decision. Undergoing a preventative mastectomy isn't right for every high-risk woman. Factors such as her estimated lifetime breast cancer risk, her willingness to tolerate that risk and her overall health must be considered.
Once the decision to undergo prophylactic mastectomy is made, the reconstructive options must be considered. As a plastic surgeon, I believe that it is very important to address with the patient the approaches that include the use of implants, as well as one's own tissues, to create the new breast.
Each patient is unique, and a personalized plan must be developed. In order to arrive at this plan, patient preferences, body type, lifestyle and overall health should all be taken into account.
During the process, it is essential that every patient take the time to develop a support team in which she is comfortable and confident. This team may include both general and plastic surgeons, medical and radiation oncologists, an internist, a geneticist and others. While the patient is the captain of her team, it is the privilege of each member of her team to strongly stand with her in helping to minimize long-term risk, maintain or achieve good health and restore wholeness.

Tuesday, February 11, 2014






latimes

Breast cancer and BRCA mutations: Removing healthy breast saves lives


By Karen Kaplan

February 12, 2014, 10:30 a.m.



Women considering a mastectomy after being diagnosed with breast cancer often face a difficult decision: whether to remove their healthy breast as well.
A new study should make it easier for some of these women to make up their minds. It concludes that patients with a dangerous mutation in their BRCA1 or BRCA2 gene were able to cut their risk of dying from breast cancer nearly in half by opting to remove both breasts.
The BRCA1 and BRCA2 genes contain instructions for producing tumor suppressor proteins, which repair damaged DNA and keep cells from turning cancerous. But certain mutations in these genes prevent those proteins from doing their job. As a result, a woman with one of those mutations is estimated to have a 60% to 70% chance of developing breast cancer at some point in her life. (For women without these mutations, the average lifetime risk of breast cancer is 12.4%, according to the National Cancer Institute.)
Studies have found that in the U.S. and Canada, about half of women with a BRCA mutation who develop cancer in one breast opt to remove the other breast as well, in a procedure called a contralateral mastectomy. But researchers had not been able to show that this logical-seeming strategy worked as planned.
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So a team of investigators from the two countries examined the medical records of 390 women who had been diagnosed with Stage 1 or Stage 2 breast cancer between 1977 and 2009. All of the women had a confirmed high-risk mutation in one of their BRCA genes, or they were from a family that was known to carry the mutation and were presumed to have it too.
Among these 390 patients, 44 decided to remove both breasts at the same time, even though one of the breasts was cancer-free. Among the 346 who initially had a single mastectomy, 137 — or 40% — later opted to remove their remaining breast even though it was cancer-free. In these cases, the average gap between the two procedures was 2.3 years. (The researchers hypothesized that these women didn’t remove their second breast right away because didn’t yet know that they had a BRCA mutation.)
In the first decade after their initial surgery, there was no real difference in survival rates for the patients who removed both breasts compared to the patients who removed one. But in the second decade, the benefits became clear: Women who went ahead and removed their healthy breast were 80% less likely to die of breast cancer than women who only removed one breast.
Over the entire 20-year period of the study, 31% of the women who had only a single mastectomy died of breast cancer. However, the women who removed both breasts were 48% less likely to die of the disease. The results were published online Tuesday by the British Medical Journal.
The researchers shared a theory about why it took so long for the benefits of a contralateral mastectomy to kick in. Among the 209 women who only had a single mastectomy, 70 of them later developed a new breast cancer in their remaining breast, and 61 of them died as a result. The researchers calculated that these second cancers were more than twice as deadly as the initial cancers. Those second breast cancers take many years to arise, the researchers wrote.
The researchers advised doctors to recommend a contralateral mastectomy to their patients with early-stage breast cancer if they have a BRCA mutation. Even patients who have already had a single mastectomy should be informed of the benefits of double mastectomy, they added.
In many ways, the dilemma faced by these cancer patients is similar to the one that led Angelina Jolie to have a double mastectomy before cancer arose in either breast, according to an editorial that accompanies the study written by Karin Michels, an epidemiologist at Harvard Medical School who studies how epigenetics influence the risk of breast cancer.
For breast cancer patients with BRCA mutations who are considering a contralateral mastectomy, there’s only one question that matters, Michels wrote: “Will this reduce my risk of dying from breast cancer?” The new study suggests the answer is yes.

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nj.com

Angelina Jolie's approach to breast cancer gene may be best: researchers

By Kathleen O'Brien/The Star-Ledger

When actress Angelina Jolie announced last May she’d had a double mastectomy to dodge the risk of gene-related breast cancer, critics wondered if she’d overreacted.
Now, however, a study of the 20-year survival rate of women with the BRCA 1 or 2 gene confirms she may be right: Women with that mutation are more likely to survive early cancer if they have both breasts removed, not just the cancerous one.
Researchers in the United States and Canada looked at the records of women who had early-stage breast cancer from 1975 through 2009. Most of those women had a single mastectomy; only 15 percent chose to remove the other, unaffected breast.
The double-mastectomy group saw a 48 percent reduction in breast cancer deaths compared to the single mastectomy group.
Phrased another way, if 100 women were treated for early breast cancer by having double mastectomies, 87 would still be alive 20 years later. If they had a single mastectomy instead, 66 would be alive after that same time period.
The only cautionary note was about the size of the study: It was small, examining the survival experience of just 390 women. For that reason, researchers said further research was need to confirm their findings.
Their study was published today at bmj.com, formerly the British Medical Journal.
The unconfirmed nature of the study's findings makes it risky to read too much into them, noted Rochelle Shoretz, executive director of Sharsheret, the national support group for young Jewish women facing breast cancer. The group’s headquarters is in Teaneck.
While BRCA1 and 2 genetic mutations are present in one in an estimated 345 people, that number drops to 1 in 40 individuals of Ashkenazi Jewish background. The mutations decrease the body's ability to ward off breast cancer.
Young women considering bilateral mastectomies for prevention purposes face unique considerations, Shoretz said. “They include the impact of surgical decisions on sexuality, breastfeeding and body image,” she said.
The researchers recommended that a double mastectomy be offered to any young woman with early stage cancer and the genetic mutation in her family history. In addition, women whose cancer was treated with a single mastectomy should be advised of the possibility of having the second, or “contralateral” breast removed as well as a precaution.