Breast Cancer and BRCA: Recommendations from a Pioneer in the Field

Dr. Beth Anglin is a breast cancer surgeon with almost 20 years of experience and a unique expertise on the genes responsible for many breast cancer cases: BRCA1 and BRCA2. These are the most common genes involved in hereditary breast and ovarian cancers, and the surgeon recently related that out of the 275-300 breast cancer patients she treats annually, she is currently following 200 that all tested positive for the BRCA gene.

“One of my first patients was 26-year-old with a breast cancer diagnoses,” shared Dr. Anglin. “She had a BRCA gene, and if we had known that earlier, her disease might have been prevented. This is what sparked my interest in genetics and its relation to cancer.”

“The BRCA gene carries with it a 50-80 percent risk of developing cancer, compared to a 13 percent risk for the general population,” she explained. “This makes a case to strongly consider mastectomy if someone tests positive for this gene, especially if there is a family history of breast cancer and it looks like BRCA was the culprit.”

BRCA Guidelines

Current national guidelines recommend women at high-risk for cancer undergo enhanced screening, including MRI.  For women with mutations in some genes, including BRCA and others such as PTEN, TP53, and CDH1, the guidelines also recommend discussing the option of risk-reducing preventative mastectomy, such as bilateral prophylactic mastectomy. Bilateral prophylactic mastectomy is the most effective means of reducing cancer risk; however, the benefits of such surgery depend on each woman’s individual risk. And these guidelines do not recommend for or against mastectomy in women who have not had breast cancer.

BRCA Trends

A recent survey queried over 500 women of varying ages on how they treated or managed their breast cancer risk. Most women had mutations in either BRCA1 (50%) or BRCA2 (40%), with a smaller number reporting mutation in other genes including CHEK2, RAD51C, RAD50, PALB2, and PTEN. The survey included both cancer survivors and previvors, with 60% reporting they had never had cancer, 38% had breast cancer, 9% had ovarian, fallopian tube, or primary peritoneal cancer, and 7% had other cancers.

The survey found that among breast cancer survivors with mutations in BRCA or other genes that increase cancer risk, mastectomy was a common procedure, with 82% undergoing bilateral mastectomy, and 8% having a unilateral mastectomy, compared to 56% of previvors who had mastectomy while 44% did not. Genetic test results and a family history of breast cancer were cited as the top two reasons that strongly or somewhat influenced a decision to have a mastectomy.

“I did my own genetic testing a couple of months ago,” added Dr. Anglin. “It showed that I had a risk for breast and ovarian cancer. In my case, I had my ovaries removed to prevent the disease.”

New techniques and technologies improve outcomes by empowering better surgical decisions

A big factor in the decision on whether to have surgery is the fact that while effective, some consider prophylactic mastectomy to be a drastic way to lower cancer risk. And even the most experienced breast surgeon cannot remove all breast tissue and a small risk of developing breast cancer remains after a prophylactic mastectomy. However, new developments are reducing the invasive nature of the surgical option.

“With more women that are oncologists, radiation oncologists and surgeons, we’re seeing surgery that is more pinpoint, less damaging and less radical,” shared Dr, Anglin. “They have been able to guide some of the studies that have demonstrated that the more invasive approach is not needed. Also, some of these women ultimately become patients, which I think personalizes their opinion.”

MarginProbe improves lumpectomy success

New technologies are also helping to make lumpectomies a more viable option in dealing with cancer. “I have patients that will come in with a small tumor and want both breasts removed,” said Dr. Anglin. “When they learn the data behind the odds of cancer occurring in the other breast, they usually opt for a lumpectomy.  The reality is that patients can be overtreated if they do not have the correct information.”

MarginProbe is one of the new tools that is increasing the effectiveness of lumpectomies. It identifies clear margins during lumpectomies to aid in both breast conservation and in eliminating the disease. Dr. Anglin has been using MarginProbe since first participating on a study that evaluated the technology in 2014.

MarginProbe results

“It’s really made a big difference in patients needing to return the operating room for additional surgery,” stated Dr. Anglin. “My return rate has dropped from about 40 percent down to about 10% using MarginProbe. This is really significant, as it’s the worst discussion to tell someone that has already undergone surgery that now they have to do it again. No matter how much you discuss this possibility beforehand, they are still devastated and that’s just miserable. A second surgery is often seen by patients not as a failure of the disease, but as a failure of the physician.”

MarginProbe is gaining acceptance not just in the surgical community, but also in the payer community as organizations are starting to understand the value of the technology. “We’re getting reimbursement from the insurance companies in some cases, because they’re finally realizing that it saves them money,” said Dr. Anglin. “In other cases, patients hear how good it works and often they are more than happy to pay out of pocket for something that has the potential to prevent the need for additional surgeries.”

Dr. Anglin discussed the concern that using technology like MarginProbe can result in a false positive, possibly resulting in the removal of more tissue than is necessary. “Nothing is 100% perfect, but MarginProbe does not take out enough extra tissue to impact cosmetic outcomes in my opinion,” she said. “I learned early-on to not worry about the false positive rates. I think more about if I did not believe the device and it turned out that MarginProbe was right.”

Dr. Beth Anglin

  • Independent, private surgeon with Complete Breast Care
  • Member of the American Society of Breast Surgeons
  • Practicing Breast Surgeon since 1998
  • Trained at The University of Texas Southwestern Medical Center at Dallas

Facing Our Risk of Cancer Empowered (FORCE)

  • Advocacy and Information on hereditary breast, ovarian, and related cancers
  • 50 local outreach groups throughout the U.S.
  • Collaborates with researchers to design and implement research studies, to enroll people into heredity cancer research and to transmit research results back to the community
  • Awareness efforts include establishing the first National Heredity Breast and Ovarian Cancer Week and National Previvor Day

For more information on BRCA1 and BRCA2, visit FacingOurRisk.org.

 

Disclaimer: The views and opinions expressed in this article are those of the authors and do not necessarily reflect the official policy or position of Dune Medical.

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