Syosset woman relates to Jolie's decision

Angelina Jolie's double mastectomy to reduce her breast cancer risk is a choice hundreds of Long Island women with mutant genes face, doctors say.

"Whenever we notice a family history that is strong for breast and ovarian cancer in someone under 50 years of age, we start asking whether this has been caused by a mutation," said Dr. Christine Hodyl, director of breast health services at South Nassau Communities Hospital in Oceanside.

Hodyl said neither she nor genetic counselors at her institution offer prophylactic mastectomy as a patient's only option.

Scientists discovered mutations in the BRCA 1 and BRCA 2 genes in a series of studies during the 1990s that revealed mutations in either gene dramatically raises risk.

Jolie, 37, disclosed her surgery in a New York Times Op-Ed Tuesday, saying she chose a double mastectomy -- also known as a prophylactic mastectomy -- with thoughts of her six children in mind.

The Oscar-winning actress said she chose to have her breasts removed, followed by breast reconstruction, because she carries a mutated BRCA 1. That gene is linked to an elevated risk of breast and ovarian cancers.

Jolie's mother died of ovarian cancer in 2007 at age 56.

Carrying a BRCA 1 or 2 mutation increases the lifetime risk of breast and ovarian cancers in the range of 50 percent to 80 percent. A mutation in BRCA 1, the gene Jolie said she carries, could lead to breast cancer before age 50, Hodyl said.

Dr. Brian O'Hea, director of the Carol M. Baldwin Breast Care Center at Stony Brook University, said a double mastectomy is one of several options.

"We don't use the word prevention," he said Tuesday, referring to prophylactic mastectomies. "We usually refer to mastectomy and other options as risk-reduction strategies, because nothing is ever totally preventive no matter what we do."

But he acknowledged that a double mastectomy can reduce risk to about 1 percent.

Another risk-lowering option involves taking the hormonal medication Tamoxifen, he said, which reduces risk by about 50 percent.

Laurie Mischo, a Syosset mother of three, said Jolie was "100 percent correct" when she wrote of the empowerment she felt in choosing to have a double mastectomy.

Mischo, 58, in July will celebrate the fifth anniversary of her own double mastectomy, which she too had after finding she carried a mutated gene that increases the risk of breast and ovarian cancer.

What's more, Mischo said, the empowerment Jolie noted in her op-ed also "goes for removing your ovaries."

Eight years ago, Mischo was diagnosed with ovarian cancer, underwent a hysterectomy and was in the chemotherapy stage when her doctor suggested she get the genetic test that revealed she carried the mutated form of the BRCA2 gene.

She said there was "no doubt in my mind" that if the results were positive, she would opt for the surgery.

Dr. Francis Arena, director of the NYU Langone-Arena Oncology Center in Lake Success, said there's a widespread notion that mutated BRCA genes lead to cancer only in people of Ashkenazi Jewish heritage.

"That may have been true if we were talking about this 15 years ago, because that was the first population of people where these mutations were first recognized, but we now know that this is not the case.

"These genes are ubiquitous so a mutation can affect anyone," Arena said. "You can be of any race or ethnicity."

Other cancers are also linked to flaws in BRCA genes, Arena said.

Pancreatic cancer, for example, has been linked to mutations in both BRCA 1 and 2, scientists have found.

Dr. Myra Barginear, a medical oncologist at the Cancer Center of the North Shore-Long Island Jewish Health System, said BRCA 1 not only is related to breast cancer in younger women, it also underlies so-called triple-negative breast cancer, which can be difficult to treat.

"Breast cancer is not a single disease; it is very heterogenous," Barginear said.

Hodyl added that triple negative breast cancers tend to be more aggressive.Meanwhile, the only screening available for BRCA mutations is manufactured by Myriad Genetics in Utah. The test has come under fire in recent years from scientists and breast cancer advocates who say the company has a monopoly on screening and the genes themselves, which Myriad has patented.

Last month, the U.S. Supreme Court heard arguments in a case brought against Myriad by the American Civil Liberties Union.

Yesterday, ACLU Senior Attorney Sandra Park said the test's cost -- more than $3,500 -- has made it inaccessible to many women. She also said Myriad's monopoly has kept newer, more accurate forms of screening off the market.

With Patricia Kitchen