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BRCA gene mutations more common than once thought

Healther Palmore, pictured at her Amityville home, is

Healther Palmore, pictured at her Amityville home, is a carrier of the BRCA gene and has a family history of breast cancer. (June 22, 2013) Credit: Danielle Finkelstein

Two years ago, Heather Palmore tested positive for a BRCA 2 mutation, a gene that when flawed is associated with breast and ovarian cancers. Her doctor told her she was his first African-American patient to receive such results.

For nearly two decades, mutations in the genes BRCA 1 and 2 have been associated with other populations despite what medical scientists now say is overwhelming evidence that black patients are also affected.

Researchers at the University of Chicago found nearly a quarter of the black women they tested carried mutations in either BRCA 1 or 2.

Palmore, 42, a trial attorney in a Garden City law firm, has never had cancer. But she was urged by her physician to undergo testing because of an unbroken chain of cancers in her family that seemed, from her physician's viewpoint, to be directly linked to a mutated BRCA gene.

"I initially resisted it," said Palmore, of Amityville, "but my doctor insisted because he was concerned about my significant family history."

Palmore, her close relatives and now her physician, Dr. Harvey Marchbein of Great Neck, know what scientists have only recently begun to confirm: BRCA mutations are far more prevalent than initially thought.


A learning experience

Learning more about the distribution of BRCA gene mutations in populations, experts say, aids in the understanding of cancer risk in general.

When healthy, BRCA 1 and 2 suppress cancer development. But for those who carry a BRCA 1 mutation, the lifetime risk of breast cancer is 65 percent. The ovarian cancer risk is 39 percent. For BRCA 2 mutations, the average lifetime breast cancer risk is 45 percent in women and 6 percent in men. The ovarian cancer risk is about 11 percent. The mutations raise the risk of other cancers, such as pancreatic, colon and uterine malignancies.

With the new population knowledge, experts predict doctors will more likely take the approach of Palmore's doctor, who recommended screening.

"The BRCA genes mostly had been associated with Eastern European women of Jewish descent," said Angelica Medina, a health educator with Sisters United in Health, an outreach program for African-American and Hispanic women. The group is part of the Adelphi Breast Cancer Program in Garden City.

Mutations have been associated with other European populations, particularly Scandinavians. But mutations were found in Asian populations as well.

Breast cancer is a major problem among black women in the United States and carries a death rate 41 times that of whites, statistics show. It is especially lethal, doctors say, because these cancers are more likely to be triple-negative, a designation given to tumors that lack specific markers on the surface of cancer cells.

To be designated triple-negative, cellular markers for the hormones estrogen and progesterone and the protein HER-2 must be absent. When cancers possess these markers there are medications designed to treat them. For triple-negative cancers, doctors try different combinations of chemotherapy.


Stalked by cancer

Ovarian and other cancers have stalked Palmore's family.

Her mother, Hazel Palmore, a retired administrator of the Malverne school district, developed ovarian cancer in her 30s. Heather was a preschooler, but vividly recalls her mother's battle.

"I remember her being in so much pain," Heather Palmore said. "I lived my life in fear through my 30s because my mother was diagnosed at 35. I always had a feeling that people are diagnosed around the same time as their parents."

Hazel Palmore survived ovarian cancer and is being treated for multiple myeloma. Her case was reported in a medical journal, Heather Palmore said.

The family tree has had further evidence of a mutation readily passed. Her mother's first cousin also had ovarian cancer; a maternal aunt died of colon cancer; another maternal aunt developed uterine cancer.

For the past two years, Heather Palmore said she has been particularly vigilant about breast cancer screening. Her doctor recommended birth control pills to lower her risk of ovarian cancer.

Doctors say it has taken a while to learn that BRCA mutations are universal, particularly with respect to breast cancer, a disease that is especially virulent in black women under age 40.

"If you had asked me a decade ago whether these findings surprised me, I probably would have said yes," said Dr. Francis Arena, director of the NYU Langone-Arena Oncology Center in Lake Success.

"But in recent years, as we try to analyze cancers that are triple-negative, we have come to learn so much more about who is at risk," Arena said.

He said some of his patients who are black have the hallmarks of BRCA-linked breast cancer: young age, aggressive cell type and a family history of cancer.

Medina noted that doctors historically believed the higher death rate among African-Americans was more likely a result of social factors, such as inattention to screening and seeking treatment too late in the course of the disease.


Ignored the evidence

Dr. Funmi Olapade, lead investigator of the University of Chicago research, said the medical profession consistently ignored the biological evidence, even in the face of startling mortality statistics.

Olapade and her colleague, Dr. Jane Churpek, used an experimental clinical test dubbed BROCA, which screened a person's genome for 18 breast- and ovarian-related mutations. The BRCA genes were most prevalent among genetically linked cancers, she said.

Palmore said members of her family who had refused BRCA testing in the past became interested recently after actress Angelina Jolie announced that she is a BRCA 1 carrier.

"I really applaud her for talking about it," said Palmore, a member of the Suffolk County Board of Ethics and a trustee of Molloy College. "I also thank my doctor for recognizing a patient with the profile for a gene."