Local surgeon sees spike in genetic testing: Genes can indicate who is at a high risk for breast cancer

By Alex Ruppenthal
Posted Oct. 3, 2014 @ 12:25 pm


Actress Angelina Jolie has changed the landscape for detecting breast cancer, both around the world and locally.

Jolie revealed in May 2013 that she had had preventative surgery – a double mastectomy — after testing positive for a gene that indicates a high risk of breast cancer. Since then, researchers at the University of Manchester in England say referrals to breast cancer clinics in the U.K. have more than doubled.

Jolie’s news has also motivated local residents to seek genetic testing for the high-risk genes.

“It’s definitely increased [because of] the Angelina Jolie effect,” said Catherine Tucker, a surgical oncologist specializing in breast diseases at Hallmark Health’s Comprehensive Breast Center in Stoneham.

Tucker said testing for the high-risk genes – BRCA1, BRCA2 and TP53 – has been available since the late 1990s.

The process is simple. Tucker said all patients have to do is gargle and spit into a container.

“It’s taking the cells off the inside of their mouth, and the cells are taken to the lab and tested,” Tucker said. “You don’t have to have your blood drawn. You don’t have to go downtown.”

Given the ease of the test, Tucker said she recommends women who qualify for testing to have it done, though she said some women choose not to for fear of learning they have one of the high-risk genes.

“You have to be understanding and just realize it’s a choice,” Tucker said. “I do encourage them if they have high enough risk that they may have the gene. It might affect their surgical choices or care if they have the gene. They might need to have their ovaries removed.”

Despite the bad news the testing could reveal, Tucker said patients benefit from knowing if they have the disease.

“We’re in the information age. Information, knowledge gives you power,” Tucker said. “If you know, you can sort of plan, think about it – you don’t have to have radical surgery. Some women do.”

Not all women are eligible for the testing, which Tucker said costs about $3,000, under insurance. Tucker said women have to meet certain criteria, such as having been diagnosed with ovarian cancer or having a relative who was diagnosed with breast cancer in her 30s or 40s.

For women who do the test, their reactions vary depending on the result and how much they knew about their family history.

“Some are a bit surprised,” Tucker said. “Some knew they had a family history but weren’t sure about the gene. And others come in knowing the relative does have the gene, and for them it can be nice to know they’re negative.”

Tucker said that when a woman whose mother has had breast cancer wants to find out if she has the gene, doctors typically test the mother to learn if the gene is present.

Sometimes, Tucker said family members disagree about whether to do the testing.

“One sister wants to know and then the other doesn’t want to talk about it,” Tucker said. “[Or] sometimes the mother doesn’t want to be tested for fear [she has the gene].”

Despite the recent spike in attention for genetic testing to detect breast cancer, Tucker said women do not necessarily need to look into being tested.

“I would like to reassure women that most women do not have this gene,” Tucker said.

What women should do, Tucker said, is practice healthy living habits and have a mammogram performed annually.

“There isn’t that much we can do to prevent breast cancer,” Tucker said. “But we do know that healthy living, keeping your weight down, exercising, minimizing alcohol intake is what we all can do. We still recommend mammograms once a year starting at age 40. It’s still the best and easiest way to find breast cancer early. If you are high-risk, there are some medications we give women to decrease their risks.

“But women shouldn’t feel badly if they get it because it’s very random. We don’t completely understand it.”

Tucker also said women should perform breast self-exams every two to three months.

And, she added, eat healthily in order to obtain all recommended nutrients, such as vitamin D. Studies show that women with high levels of vitamin D when they are diagnosed with breast cancer are almost twice as likely to survive as those with low levels.

“The healthy living is the best way to go,” Tucker said. “It’s so crazy, the healthiest people in the world can still get breast cancer.”

To contact Hallmark Health’s Comprehensive Breast Center, call 781-224-5806.


Full article can be seen here.
Wicked Local Staff Photo / Nicole Goodhue Boyd

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