Breast cancer runs in this Pa. family - but so do strength and love

As much as Eagles games, big holiday dinners, and pulling together in times of trouble, breast cancer is woven into the fabric of Maria Gentile's family.

Her maternal great-grandmother died of the disease. Her maternal grandmother beat it twice, decades before Maria was born. Two aunts also are survivors.

Then came testing that revealed that four of her grandmother's six children have the genetic mutation that means heightened risk for breast and ovarian cancers.

One of them is Maria's mother. For about 10 years now, Maria, 23, has known she has a 50 percent chance of carrying the mutation herself.

Knowing that, she said, "has definitely made me more determined about learning all I can about the mutation. The more knowledge I obtain about something, the more identifiable and, therefore, less scary it becomes to me."

Maria's outlook is shared by more young women in her situation than one might guess.

A new study by University of Pennsylvania researchers has found that although girls and young women age 11 to 19 from families with a history of breast cancer are more aware of their risk, that knowledge doesn't lead to higher rates of psychological problems such as depression and anxiety. An earlier study of 11- to 13-year-old girls by the same team had similar findings.

To the contrary, the researchers found that females in the newer study scored higher on a questionnaire measuring self-esteem than study participants whose families aren't so prone to cancer.

"Overall, girls in families with a history of breast cancer seem to cope pretty well over time," said lead author Angela R. Bradbury, an assistant professor of hematology and oncology in Penn's Abramson Cancer Center.

"They do worry more about breast cancer than their peers do, particularly as they get older, but that doesn't seem to impact them in terms of depression, anxiety, and general psychological adjustment," she said.

For these girls, thinking about cancer risk isn't necessarily a bad thing, Bradbury said. "It may even be a motivating factor to adopt a healthier diet or to exercise more."

There are some data that suggest adopting these healthy lifestyle behaviors in adolescence may reduce the risk of future cancers, she said.

The research involved 320 females, age 11 to 19. Of those, 208 had family histories of breast cancer, including 69 who were aware of their relatives' testing positive for mutations of their tumor-suppressing BRCA1 or BRCA2 genes.

The 112 other participants did not have a family history of breast cancer.

The girls' mothers also took part in the research.

According to an article on the study published in the Journal of Clinical Oncology last month, self-esteem was higher among the girls with a family breast cancer history, and depression was lower among girls who have more relatives with breast cancer.

"These data suggest that exposure to relatives with cancer in the family might foster adaptive responses," the article states.

In addition, better self-esteem was also associated with "lower mother anxiety and better family communications," according to the report.

"Our data would suggest family influence is very strong," Bradbury said.

Maria Gentile, like her posse of nine cousins, grew up in the arms of a large extended family in the small towns of Lackawanna County outside Scranton.

Cancer took Maria's great-grandmother about a month before the woman's first grandchild, Marie's Aunt Lori, was born.

Maria's mother, Christine Gentile, 52, said she was about elementary-school age the first time her mother was diagnosed. Few spoke of the disease in the early 1970s. There were no pink ribbons, no Race for the Cure.

"Back then, it was still hush-hush," Christine recalled.

"All I knew is she had breast cancer, she had surgery, and she got better."

Christine's sister, Mary Lynn Gaetano, had two children - Nicole and Christopher. In 2005, she noticed a lump in one of her breasts and called her mother into the bathroom to get her opinion.

"She said, 'You better call the doctor,' " Mary Lynn, now 51, recalled.

"When Mary Lynn was diagnosed we were all devastated," Christine said.

The siblings told their children in their own ways.

"Initially you try to shield them, but they were very close to my sister," said Christine, the mother of three. "I obviously didn't give in to my fears" in front of them.

Mary Lynn had chemotherapy and radiation. She lost her hair faster than she expected.

When she went wig-shopping, her daughter, Nicole, and niece Maria, a year apart, came along. The girls turned the errand into play, trying on wigs, making fun of the hairdos.

"They made me laugh," Mary Lynn said. "They made it fun." Afterward, they all went for water ice.

Mary Lynn was the first in her family to have genetic testing. The sisters who tested positive made a decision: mammograms and breast MRIs every year. That's how the oldest, Lori Marinucci, now 53, found out she had breast cancer, too, caught very early. She felt grateful. A brother, Michael Olenchak, 44, was also tested and found he had the gene - an important discovery, both because men can pass along the gene and also because these men may be more at risk for aggressive prostate cancer and male breast cancer.

Several years ago, Christine saw an article in the local paper about a running group for women who were breast cancer survivors. She told her sisters.

"I never ran in my life," said Lori, who now runs three times a week.

Every year, a local Susan G. Komen Race for the Cure is held in Scranton.

"We go every year," said Maria, who also runs.

She remembers the first time. Mary Lynn was still too weak to go. Her loved ones went for her. A few years later, the aunts finished the race together, holding hands with other survivors.

"That race was so emotional," Maria said. "The whole extended family was there."

According to the National Cancer Institute, about 12 percent of women will develop breast cancer at some point in their lives. Yet 55 percent to 65 percent of the women who inherit the BRCA1 mutation and 45 percent with the BRCA2 mutation will get breast cancer by age 70.

About 1.3 percent of women will develop ovarian cancer, while 39 percent of those with the BRCA1 mutation and 11 percent to 17 percent of those with the BRCA2 mutation will get the cancer by age 70.

Such mutations can also be associated with some other kinds of cancer.

The most effective preventative option for hereditary cancer, according to current research, remains surgery - preventive mastectomy and removal of the ovaries.

But research is ongoing into other means of prevention. One study of women with BRCA mutations showed that those who were most active during their teens developed cancer later in life than those who were sedentary as youngsters. Study into the impact of nutrition and exercise is continuing.

Many experts advise against BRCA testing for teens and younger children because they may be too young to handle the information emotionally, or to choose the surgery.

Bradbury, however, said that when a mutation is already known in a family, there are no data that prove waiting until 18 to 25 to test is better than doing it when a parent and adolescent feel they are ready.

In Maria's family, parents tell their kids about this aspect of their heritage but leave it to them to decide whether to get tested. Both Maria and her cousin Nicole, 23, a University of Scranton graduate student, plan to get tested.

The young women both know they could have the mutation and never get cancer. But Nicole, who is in a serious relationship, said she may have a preventive mastectomy if she has the mutation.

"I never want my kids to see what my mom went through," Nicole said.

As their elders did, the two cousins plan to travel to Philadelphia together to go to Penn's Basser Center for BRCA for the tests, and will wait until next summer so Nicole's brother, Christopher, can join them.

Maria isn't sure how she will react, but she views getting the knowledge as one more dose of prevention. She already keeps to a healthy lifestyle, eating well, exercising, doing regular self-exams. Whenever she learns something new about healthy living or breast or ovarian cancer, she passes it on to her family.

Maria considers herself a positive person by nature.

"I have a huge family support system," she said. "I feel comfortable and prepared for whatever is to come because I am not only armed with information, but also surrounded by loved ones who have already overcome the battle."

"I think if they've gone through it and they're OK, I can do it," Maria said. "That is inspiring to me. It shapes the way I think about everything."

rgiordano@phillynews.com
215-854-2391
@ritagiordano