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23andMe Gene Test Might Falsely Reassure Some People Of Breast Cancer Risk: Study

Since 2010, 23andMe has charged people to test themselves for potentially harmful gene mutations, such as those in the BRCA1 and BRCA2 genes, which, when mutated, can dramatically increase a person’s risk for developing breast or ovarian cancer.

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But while 23andMe can screen for the three most well-known BRCA mutations, the test is not FDA-approved to test for the remaining 1,000-plus BRCA mutations. This presents a problem for people taking the test: As many as 94% of BRCA mutations may be missed with the stripped-down test 23andMeoffers, according to a recent study.

Dr. Pamela Munster, an oncologist and director of the Center for BRCA Research at UC San Francisco Medical Center, tested negative on her 23andMe BRCA screen. Two years after taking the 23andMe test in 2010, she was diagnosed with breast cancer.

“I never thought I would be at high risk for a BRCA mutation,” Munster told ABC News, noting that even if she had been concerned about carrying a BRCA mutation, she would not have qualified for screening. “I didn’t meet any criteria that made me high risk.”

23andMe has introduced warning labels since Munster took the genetic test. A spokesperson for the company told ABC News that test results clearly warn customers that these 1,000-plus alleles or variants [are] not captured, so [the] panel does not rule out a potentially high-risk mutation.”

The spokesperson also pointed out that “before customers can even access their results, they’re required to review an eight-page module.” That module highlights the limits of the 23andMe test, noting that the 23andMe test should not replace routine screening and that results should be reviewed with a clinician, who can help the patient get a complete test done.

Munster said that she doesn’t think 23andMe is trying to mislead its customers, but expressed fear that they may not be able to fully interpret abnormal test results on their own.

BRCA mutations are rare in the United States., occurring in one in 300-500 women. The U.S. Preventive Services Task Force recommends BRCA screening in people with a strong family history of breast or ovarian cancer, or relatives who have BRCA mutations.

23andMe has helped a number of people who may not have known they were at high risk for a BRCA mutation, the company’s spokesperson told ABC News. He added that “a substantial fraction” of the company’s BRCA carriers did not report a high-risk family history, so they wouldn’t have met the criteria for traditional BRCA screening.

Not only has the test helped to identify BRCA mutation carriers who may not have qualified for formal screening, it has also helped educate them about risk factors for breast cancer. Many of these customers who discovered their BRCA mutations went on to undergo prophylactic surgeries to mitigate their risk after additional clinical testing and physician consultation, the spokesperson said.

Unlike 23andMe’s test, the physician-prescribed blood test, called a multigene panel test, screens for many mutations beyond BRCA genes.

“[While] a lot of people think of the heredity of breast cancer as purely BRCA-related, 90% of our genetic testing includes genes other than BRCA,” Dr. June Hou, gynecologic oncologist and director of Columbia University’s Hereditary Breast and Ovarian Cancer Program, told ABC News.

BRCA mutations have also been linked to pancreatic cancer, colorectal cancer and skin cancers like melanoma, among others, Hou said. Because BRCA2 mutations have been linked to a higher risk of breast cancer in males, she said that she reminds female patients with BRCA2 mutations that the mutated gene might not only affect them but their male family members, too.

Case in point: Shortly after Munster discovered she had breast cancer, her father was diagnosed with pancreatic cancer. When she recommended that he get screened, he came back positive for a BRCA2 mutation.

As scientists continue to uncover the genetics of breast cancer, the popularity of sites like 23andme underscore concerns about who should be screened. Until then, experts recommend that doctors provide their patients with a safe space to discuss the pros and cons of testing and to recognize that breast cancer screening is individualized and patient specific.

Navjot Kaur Sobti is an internal medicine resident physician at Dartmouth-Hitchcock-Medical Center/Dartmouth School of Medicine and a member of the ABC News Medical Unit.

Editor’s Note: This article has been updated to include additional information and clarification.


New Technology Can Help Breast Cancer Patients Heal Faster During Recovery

PHOENIX (FOX 10) – In this week’s Community Cares, a Valley plastic surgeon is talking about groundbreaking technology used in both mastectomy and reconstructive surgery, which can now both be performed in one day.

“Breast reconstruction is typically is done in multiple stages and each patient has their own unique clinical consideration, there are different types of breast cancer different locations of breast cancer different sizes and shapes of breasts, both historically and currently breast reconstruction takes stages,” says Dr. Bryan Gawley.

Dr. Brian Gawley, a board certified plastic surgeon, says thanks to new technology, the steps taken to reconstruct a breast after a mastectomy due to breast cancer are becoming few and far between. 

“This technology called Stryker SPY allows us intraoperatively to more quantitatively look at the blood supply to the skin after a woman has had her breast removed,” explained Dr. Gawley.

In a video provided by the North Scottsdale Gawley Plastic Surgery Practice, Dr. Gawley and Raman Mahabir, a cosmetic plastic and reconstructive surgeon, demonstrate how the technology identifies patients who develop necrosis and reduces blood supply restrictions to the breast tissue, the main cause of necrosis.

“The biggest thing that this going to help in terms of recovery is wound healing, every surgery creates a wound and we need those wounds to heal,” said Dr. Gawley.

The new technology can also be used during gastrointestinal and cardiac-related surgical procedures.


Florida Mom Battling Cancer Posts Facebook Plea For Breast Milk

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FLORIDA (WFLA) – Jessica Purcell is one tough mama.

She’s a captain in the United States Army. She’s served overseas on multiple deployments in places like Afghanistan and Qatar.

She’s faced dangerous situations before. But, it was her battle here at home with breast cancer where she found herself fighting for her life and the life of her newborn son.

“I just knew ultimately, this is God’s will, God’s way. Somehow, some way, it will, we can do this,” she said, cradling her 5-week-old baby boy. He is her miracle.

When Jessica was 9-weeks pregnant, doctors gave her devastating news. She was diagnosed with breast cancer.

For this St.Petersburg mom who served in the military, perseverance and positivity became her ammo in battling the disease. “We got this, somehow it’s going to work out,” she said with a sigh and a smile. “Just keep the faith. Keep your hope. It’s so mental.”

Jessica would need that mental strength and toughness as she endured a mastectomy and 12 rounds of grueling chemotherapy, all while pregnant.

At the same time, she and her husband were also raising their little girl, nearly two-years-old. “Just going through chemo alone is hard, being pregnant is hard. But, going through both, I just, you would never imagine doing that,” she told us.

She explained how terrifying it was to face chemotherapy while carrying her son. She says she sought multiple opinions from top oncologists all over the country and coupled their findings with extensive research she performed on her own.

She says she was told if she didn’t seek chemotherapy treatment, she would most likely not survive to see her son or raise her daughter. She recalled the fear and crippling anxiety she felt wondering what her future held.

Jessica relied on her faith, friends, family and support groups comprised of other moms going through similar circumstances.

Then, came the joyous moment. She gave birth to a healthy baby boy in March.

But, because she couldn’t breastfeed, Jessica wanted to give her little guy a boost to his immune system. A jump-start for baby Jameson.

So, she posted a plea on Facebook for breast milk.

“I’m like, ‘Oh my goodness,'” Jessica told us with a wide grin. “This is, you know I mean. I have offers coming from around the world now, just to ship from other countries. I literally thought just the girls in St. Pete, maybe Tampa would be a stretch.”

The mother of two says she’s still in shock that her goal went global.

For now, she’s focusing on feeding her son with donated breast milk from local moms and familiar faces. She says some moms have paid for extensive bloodwork when offering their milk, while others are close friends in which she has a history.

“It’s wonderful, it’s overwhelming. My freezer is full, I can actually feed my little guy,” she said.

Jessica says she’s pleasantly overwhelmed with the love and support she’s received worldwide. It has warmed her heart and strengthened her mama bear spirit.

“I’m more excited than anything, I’m just so blessed,” she told us. “My little guy, he’s here, just a breath of fresh air.”

Jessica has one more final chemo treatment, then she will soon begin radiation. She says her nurses at Moffitt Cancer Center keep her going, as does her moms’ group.

“They’re angels to me!”

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