The ties that bind a family are constructed of intricate DNA, and often those ties carry more than the genetics to re-create mom’s nose or dad’s eyes.
Sometimes they carry a predispositon for cancer.
That fact was brought into the spotlight by a New York Times op-ed by Angelina Jolie, in which the actress revealed she had undergone a double mastectomy to avoid breast cancer.
It was a story Longview resident Vicki White was already living.
White, 60, underwent genetic testing in 2012 while taking chemotherapy for invasive ductal carcinoma. Her test indicated a genetic threat that put her and her four children at a risk for cancer up to five times higher than the general public, according to National Cancer Center statistics.
White chose to have her breasts removed, despite the absence of cancer cells.
“When I went to have my appointment ... she (genetics counselor Monica White) said ‘I have a patient who has been through chemo four times because she didn’t want to have the double mastectomy.’ ” White recalled. “I don’t understand that, because I don’t want cancer. I would do whatever it took to not have it.”
Hereditary Breast and Ovarian Cancer Syndrome is a hereditary tendency to develop breast, ovarian and other cancers.
It is marked in DNA by the mutation of Breast Cancer Susceptibility Gene 1 or Breast Cancer Susceptibility Gene 2.
The genes are “caretakers” that help stabilize normal cells by repairing DNA or destroying cells that can’t be repaired. If defective, they’re ability to repair DNA is lost, making a male or female more susceptible to cancer.
Women such as White and Jolie are voluntarily undergoing tissue removal to prevent the cancer that genetic tests predict in their future.
About 60 percent of women who have inherited harmful mutations in BRCA1 or BRCA2 will develop breast cancer, as opposed to 12 percent of women in the general population, according to estimates of lifetime risk studies by the National Cancer Institute.
Risk for ovarian cancer increases as well, from 15 percent to 40 percent of those inheriting the harmful mutation developing the illness, while only 1.4 percent of those without the mutation are diagnosed.
Acute care nurse practitioner and genetic counselor Monica White with Texas Oncology counseled Vicki White.
“When we find a person who might have some red flags for hereditary syndrome, then I do a genetic consult and draw out a family tree,” said Monica White, adding that the center follows guidelines determined by the National Comprehensive Care Network.
In the six years or so she has been counseling in Longview, Monica White said 44 people have elected to have preventative surgery. She said she counsels from one to two patients each day, with many more choosing to take the genetic testing than not to. The reason they do, she said, is usually their children.
“Monica told me ‘Your kids are at risk,’ ” White said. “I got real emotional, just sick at my stomach thinking about my kids.”
She has four children — daughters Amanda Richardson, 39; Meagan Avaltroni, 35; Monica Wendt, 34; and son Bo White, 32.
Meagan, the child Vicki calls her “twin soul,” tested positive just after Thanksgiving. The family is awaiting results from Bo’s test.
“Meagan was so precious when she got the news she was positive,” her mother said. “She was worried about me.”
“I was worried, very, very worried,” Avaltroni said. “Because I knew she would feel guilty … because it’s the same way I feel about my children. I was automatically in the same exact place she was with me. I said you gave me life and you saved my life.”
Mother and daughter made eye contact and fell silent for a moment.
“She said ‘I hopefully will never have a cancer diagnosis because of you, mom.’ It made me cry,” White said.
Avaltroni, after discussion with husband Alex Avaltroni and Dr. Kavita Nirmal, decided to have a hysterectomy in January, and will have a double mastectomy some time after summer.
“Watching her (White) do chemo ... it was extremely traumatic. If I could spare my children from having to watch me do that — it was an easy decision,” said Avaltroni, who has two small children. “I want them to see me take control, be proactive, educate myself so that I can educate them, because they have a 50/50 chance of carrying the gene also.”
Genetic testing
While there is no standard criteria for recommending someone be tested, physicians recommend a family member diagnosed with breast or ovarian cancer should be tested for BRCA1 and BRCA2 irregularities first, to limit the expense of testing.
A blood sample is taken and analyzed by a lab specializing in that type of test, usually taking a couple of weeks to get results.
“We really embrace that knowledge is power, and it enables people to make those decisions for themselves, instead of having a surprise,” said Monica White.
She said Vicki White’s family is the first at the center where all the children have been tested.
“If you have the opportunity to protect yourself and be proactive, its an amazing gift to be lucky enough to take advantage of,” Avaltroni said.
Counseling usually involves psychological risks and benefits of genetic testing, a risk assessment based on the individual’s family medical history and the potential affect of results.
“Some people feel a tremendous sense of guilt — and this is nothing that anybody has any control over. The only thing you have control over is to spread the news and share it and let people make their own decisions. There are some people who just don’t want to know,” Monica White said.
While genetic tests show only a person’s risk of developing cancer, it cannot tell when or if it will happen.
“Only five to 10 percent of patients have the BRCA mutation,” said Nirmal, the doctor. “So most do not. I think it’s important to remember that not everyone needs to be tested for BRCA.”
Avaltroni said she plans to have her children tested when they turn 18.
“They know mommy’s got ‘boo-boos’ right now. They’re aware,” she said. “We haven’t brought up the fact that it’s a gene mutation, but we’re going to talk about it with them as they get older and make them aware of it.”
For now, she is focused on educating herself.
“I hope I can be one of their biggest cheerleaders, one of their biggest resources. I want to know as much about this as I possibly can.”
Mother and daughter did differ on one decision.
White chose to not have reconstructive surgery, while Avaltroni plans to have it.
“It will help me to feel more like me, more normal,” she said.
“If this had happened to me at 35, I’d have chosen that as well,” White added. “ My age had a lot to do with me not caring.”
A greater risk
Specific mutations in BRCA1 and BRCA2 are more common among certain ethnicities. Mutations are about five times more likely in Norwegian, Dutch and Icelandic and the Ashkenazi Jewish populations.
A woman’s chances of developing several types of cancer is highest if multiple family members have been diagnosed with breast cancer and she has Central and Eastern European ancestors.
After Avaltroni tested positive for BRCA2, her doctors recommended a full body scan, and melanoma was found on the back of her leg.
“The day that she (Angelina Jolie) came out and made that statement, we heard it in the waiting room, in admitting, as we were getting ready to have my surgery (to have melanoma removed),” Meagan said. “ It was kinda like ‘hey, we’re getting some recognition.’ ”
Researchers point out that studies on the mutated genes have been limited to large families, which may not accurately reflect levels of risk in the greater population. Families share not only genes, but environmental factors as well.
Several options are available for those who receive postive test results — frequent cancer screening for early detection, surgery to remove at-risk tissue such as Vicki and Meagan elected to have, and in some cases taking drugs such as tamoxifin, which lowers chances of developing breast cancer by about 50 percent.
“I’ve heard some people discuss why have the surgeries when you could just monitor yourself more closely and be in control of your health that way, and you know, everyone has their own opinions.” Avaltroni said. “But it’s what my doctors recommended, what I felt best about.
“I wanted to eliminate that worry, so I can be there for all the t-ball games and dance recitals, and I don’t have to miss anything because I did end up getting a diagnosis and going through treatment.”
This story was originally posted at www.news-journal.com.