Mutated gene puts women at greater risk for breast and ovarian cancers
By Caitlin Kerfin
York Daily Record
YORK, Pa. (AP) - Connie Radziewicz received a heart-breaking diagnosis in 2013: stage four ovarian cancer.
Her family had an ugly history with cancer. Her mother died of ovarian cancer when she was 75. Her brother lost his battle at age 56 with what was believed to be prostate cancer that had ravaged his body. All but one of her uncles - her mother's brother - succumbed to cancer; her aunt died from esophageal cancer; and her only living uncle on that side of the family now has esophageal cancer. All of her uncles on her father's side of the family also died from cancer.
Radziewicz's diagnosis and family history led to a decision that would change the course of her life and those around her. She had her DNA tested for the BRCA gene, a mutation that puts a woman at much greater risk for breast and ovarian cancers. She wasn't sure if she should be tested. She had heard that actress Angelina Jolie chose to have her ovaries and breasts removed because she had been found to have the BRCA gene mutation.
Her doctor told her that the tests weren't for her; they were for her children.
"That's when we decided to go through with it," she said. "Not in my wildest dreams did I think of a genetic mutation. You don't think about it until it happens to you."
It happened to her. The results, delivered in a doctor's office, confirmed what her doctor believed: She had the BRCA gene mutation, likely from her mother's side of the family.
"I was shocked," she said. "Then I was really concerned for my children."
A family devastated by cancer deaths finally had an answer, but a troubling question remained: Did she pass on this gene to the next generation?
As she picked up the phone to begin calling her son and daughter, siblings and cousins, she knew that they, too, would face the same life-changing decisions she was beginning to make.
Reducing risk
Radziewicz's BRCA test results from Myriad Genetic Laboratories said she had "as much as an 84-percent risk of breast cancer and a 27-percent risk of ovarian cancer by age 70."
After Radziewicz's ovarian cancer diagnosis in 2013, she underwent three surgeries in two years and seven rounds of chemotherapy, something she found debilitating and devastating, making her feel 90 years old, she said. During her initial remission from ovarian cancer, she had a test done on her breasts because a spot was found. She didn't hesitate in her decision to undergo yet another operation. This time, doctors would remove both of her breasts.
"My percentages aren't very good for getting (cancer) again, but I feel lucky to be alive and thankful the doctor recommended (getting tested)," she said.
Soon after that surgery in February 2015, her cancer returned. There is no cure for ovarian cancer; Radziewicz's best hope is remission.
Knowledge is power. That's the philosophy that drove Radziewicz to tell each of her family members that she carried the BRCA gene, and they might, too. Testing gives a gene carrier the chance to be a "previvor," someone who takes preventative measures, like a mastectomy.
She hoped her family members would take the news to heart and get tested for the gene.
Most of them did.
Her son, now 40, chose to be tested for BRCA in 2014, and it came back negative.
But they weren't all so fortunate.
'I have a lot of work left to do'
When Radziewicz called her daughter, Nichole Pangle, to tell about the BRCA gene mutation, Pangle knew deep down she was carrying it, too.
She was at peace with the news.
"I know how hard that must have been to tell me, and I don't want to have to do that for my kids" said Pangle, 34, of Virginia. So, she decided to get preventative surgery.
"In my family with this mutation, everyone that has it has developed cancer," Pangle said. "My kids need me. I have a lot of work left to do in this world."
With the support of her husband, Pangle opted to have her ovaries and Fallopian tubes removed in March 2014. The following June, she had a double mastectomy. The procedure reduces a woman's risk of breast cancer by more than 90 percent, said Jacqueline Evans, a gynecologic oncologist at Cancer Care for Women in Lancaster.
"I'm glad my daughter was able to save herself," Radziewicz said, tearing up about the possibility of her daughter getting cancer. "I feel horrible I gave it to her, but I had no knowledge."
Pangle's journey wasn't over yet, though. This past year she noticed some bleeding issues and had to have her uterus removed as well.
Going through menopause at a younger age isn't easy, Pangle said. It's hard emotionally, but it has also wreaked havoc on her body because she has no estrogen. Her joints ache, she suffers hot flashes, and running to keep up with her kids is difficult.
She doesn't regret the preventative surgeries. She's glad it happened so she can avoid cancer and help others through it.
But she faces the same issue her mother did: Her kids, Matthew, 8, and Lilly, 3, have a 50-percent chance of inheriting the mutation. The gene can be passed on to either sex.
"I think about it often, that they could have it, and my biggest fear is my child with autism (Matthew) is the one to inherit it because he is nonverbal and can't tell me if he's feeling sick," Pangle said.
She is always open and honest with her kids and plans to tell them just because her decisions for surgery were right for her, doesn't mean they will be right for them.
"Even though people might look at it as a bad thing, it helped me grow and taught me to rely on prayer a lot," Pangle said.
Family faces a deadly bond
Vicki Hoover panicked when she learned her sister had the BRCA gene. Like her niece, Pangle, she knew her ovaries had to come out. She couldn't outrun this family history.
"There were times I wanted to go up to the cemetery and go, 'Thanks mom,'" said Hoover, of East Prospect. "You feel unlucky. You feel like you're marked."
In August 2015, she went into surgery expecting it to be strictly preventative. But it was too late. Doctors found Hoover was in stage 1 ovarian cancer.
Hoover couldn't concentrate when she found out; she was shocked. Her doctor kept repeating: "Do you know how lucky you are?"
"If I wouldn't have got tested for that gene and they wouldn't have removed my ovaries, I wouldn't have found out until I was stage three or four, like my sister did," Hoover said. "Mine was like a little miracle."
She tells her sister all the time that she saved her life. Even though Hoover had to go through chemotherapy, it was found at an early stage. Her oncologist told her, "You were blessed in a bad way, but you were blessed," she said.
She wants her children to have the same opportunity, but so far, they won't get tested for the gene.
"It's like a cloud over their heads until they know," Hoover said.
It's a hard decision, but getting tested not only allows for preventative measures, it also helps the science and research on genes.
Hoover isn't done with surgery, though. She wants her breasts removed next.
"Mentally, I know I've got to do it, but I don't want to do it," Hoover said. She has seen what her sister has gone through and knows the changes could be visible because she doesn't want implants. She is burdened by how she will dress and whether people will notice.
Like her sister, she will always live with ovarian cancer. She saw her mother and brother in their final moments, taken by the diseases with which the family has become all too intimate, and those memories make her reluctant to ask her doctor about her own prognosis.
"I think I'm going to die from this." Hoover said.
Surviving
When someone lives with a terminal illness, they look at life differently, Radziewicz said.
She recently checked off parasailing from her bucket list. She went alone. Zip lining is next on her list. She's living life to the fullest and enjoying every moment.
But while she's going on adventures and walking four miles every day in Wrightsville, reality is not far behind. She has to continue to be tested for cancer every three months, and at her last checkup on Oct. 14, two spots were found on her lungs. More tests need to be done, but recent blood work offered good news: She is still in remission.
"I don't think this is something you need to be afraid of," she said. "It's not a death sentence."
Testing gives people a chance to survive, she said.
"I hope God will use me as a tool to help others."
The gene plagues the family
The BRCA1 and BRCA2 genes have been found to be linked to certain cancers including prostate, pancreatic, breast and ovarian cancers, said Jacqueline Evans, a gynecologic oncologist at Cancer Care for Women in Lancaster.
BRCA1 indicates a greater risk for breast cancer than does BRCA2, but those with BRCA2 are still at a greater risk that the general population, she said.
Testing for the gene is done with a blood or mouth wash test.
You can't just get tested if you're worried though. Because the test is so expensive, there has to be a personal history of cancer, a known mutation in the family or a compelling family history.
More than 96 percent of the tests are covered completely or partially by insurance if there is history, and results come in about two weeks, Evans said.
For Evans, there's another requirement.
"We have to know what you're going to do with the results before you get the test," she said. If the patient, male or female, doesn't plan on doing anything with the results and just throw them under the carpet, she won't test them. The patient has to be prepared to act, whether that means monitoring the issue with a doctor or opting for risk-reduction surgery.
It's Amanda Matchette's job as a genetic counselor at WellSpan Health to help people through the decision process of whether to get tested. She said she has had people not go through with testing because they are not sure they can handle the information.
"It is scary; it's not something we deal with every day," Matchette said about getting tested. "When talking about genetic information, that's something you can't change and that's difficult for people to process," she said.
Children have a 50 percent chance of having the mutation if a parent has it, Evans said. It is suggested that children should be tested about 10 years younger than their parents were at diagnosis.
For women, risk-reduction surgery isn't usually recommended until the patient is at least between 35 and 40 years old, once childbearing is done and the woman is close to menopause, Evans said.
Published: Tue, Feb 23, 2016
