Family loosens cancer's grip with genetic testing

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【 This post was originally published on here. 】

Cancer has a grip on Beverly Thompson’s family.

Her brother was 5 when he died of leukemia; two kinds of cancer attacked her father: esophageal and multiple myeloma; her uncle had prostate cancer. A first cousin died of breast cancer. Another uncle also had breast cancer.

“It’s so crazy,” said Thompson, 57, of Clarkston. “They said there were some women in the family that died of what they thought was breast cancer years ago, but they didn’t know.”

Something insidious was lying in wait in her genes.

► Related: Free mammogram event set for Michigan women in need

Still, Thompson was devastated when doctors told her in 2012 that it was her turn, that cancer had grabbed hold of her, too.

Thompson’s was triple-negative breast cancer. A tumor had adhered to the left side of her chest wall. It was Stage 1 — caught early, thanks to the diligence of nurses at the Cleveland Clinic who did repeated mammograms and ultrasounds when they thought they saw something peculiar on her routine scans.

Doctors recommended that she be tested for genetic mutations that would make her more likely to develop breast, ovarian and other cancers. It was then that Thompson learned she carries the BRCA2 gene mutation, one of several tied to increased cancer risk.

“When I was diagnosed with this, I almost had this guilt. It’s like, OK, there’s a 50/50 chance I passed this on to my children,” said Thompson, who has two daughters and a son, along with four grandchildren. “Nobody wants cancer, but I am so grateful that in having the cancer, we were able to find this out, and hopefully, it’ll be a benefit to our whole family.”

► Related: Thousands walk in Detroit’s Hart Plaza for breast cancer research

The news rocked them all — spurring a move from south Florida back to Michigan — and led to some weighty decisions for her daughters, Tori and Brittany, and her son, Bryce.

Inheritable cancers rare

Although Beverly Thompson was diagnosed with the BRCA2 genetic mutation, inheritable breast cancers like hers are relatively rare. They account for only 5% to 10% of all cases nationally, according to the National Cancer Institute. The estimate is that 1 in every 400-800 people carries the BRCA1  or BRCA2 gene mutation.

Some ethnic groups are more likely to have it. Among people of Ashkenazi Jewish descent, the risk of carrying the genetic mutation is 1 in 40. People with Norwegian, Dutch, and Icelandic ancestry also have a higher risk.

Thompson started chemotherapy in Florida. But when the Adriamycin treatment, also known as “the red devil” for its brutal side effects, became too unbearable, she started looking for other options. She found the Cancer Treatment Centers of America was using a new chemotherapy on women like her with triple-negative breast cancer, one that wasn’t as harsh.

Her husband, Mark Thompson, asked his employer for permission to work remotely so the family could move from south Florida to Clarkston to be near their son, who lived in Davisburg. The move also would put them in closer proximity to the Cancer Treatment Centers of America, in Zion, Ill.

In the year that followed, Beverly Thompson underwent a double mastectomy, six rounds of chemotherapy and radiation. She also had breast reconstruction surgery.

► Related: Breast cancer survivor ready to run Detroit marathon without worries

She explained to her daughters what her doctors had told her about the dangers of the BRCA gene mutations in women: “It’s not if you get cancer, it’s when.”

Indeed.

For women with the BRCA1 mutation, “the lifetime risk for developing cancer can be as high as 80%. The risk for developing cancer of the ovary is around 50%,” said Dr. Dennis Citrin, an oncologist with the Cancer Treatment Centers of America’s Midwestern Regional Medical Center. “For BRCA2, the lifetime risk of developing breast cancer is about 60%, and cancer of the ovary is 25%.

“These are very high numbers, especially for BRCA1.”

Eager to know her fate

Tori wanted to know right away whether she, too, carried the mutation. But at the time, she was teaching English to children in Saipan in the Northern Mariana Islands, where she worked as a missionary. In 2013, she came home at the end of the school year, and stayed with her parents as she underwent genetic testing.

“I’m a person who would rather know something than not,” she said. “When I found out I had it, I was pretty sad, but what softened the blow was knowing that … my mom got through it. It felt like something that could be handled. Instead of feeling absolutely alone in this, I knew there were people I could talk to.”

She, too, went to the doctors and geneticists at the Cancer Treatment Centers of America, and became the first person at the center without breast cancer to undergo a preventative double mastectomy and reconstructive surgery. She said before she turns 40, she’ll also have her ovaries removed to reduce her risk of ovarian cancer.

“I talked and prayed about it with my family,” said Tori, now 28. “I did research, even about baby formulas. I remember meeting a 21-year-old girl, and she had the triple-negative breast cancer. And I knew that it didn’t mean I’d get cancer right away, but for me, it was like why wait?

“It was a good time for me in my life. I had just gotten out of a job, and I was still under my parents’ insurance and would continue to be under their insurance for a year. … And so when we really started planning for it, that’s when I turned 25.

“For me, it was kind of empowering to take a step like that. … My heart is for missions, and ministry and being able to travel. I wanted to be able to do those things wherever God took me. Doing it then made me feel I could do those things without having to be scared about any little change in my body, scared that the boogie man cancer was out to get me. It felt more freeing to do this.”

But that isn’t the right choice for every woman with a BRCA1 or BRCA2 gene mutation.

“I give people the numbers based on what the specific mutation is … their risk over a lifetime,” said Dr. Jeffrey Falk, a surgical oncologist with St. John Providence who specializes in breast cancer treatment.

“Then there are a lot of options. There’s everything from … bilateral mastectomy with or without breast reconstruction, to increased surveillance, meaning alternating the MRI and mammogram every six months, to anti-estrogen therapy for risk reduction.

“Among women with the BRCA1 (mutation), the problem is 80% of patients will go on to develop triple-negative breast cancer. … I’m more concerned with those patients. But certainly for BRCA2 (mutations), … anti-estrogen therapy may be very effective in those patients, cutting in half their risk of developing breast cancer over a lifetime. Prophylactic surgery, the numbers are 90% to 95% reduction in their risk of getting or dying of breast cancer. So that’s a huge reduction. It’s obviously a big step, and a big decision.”

The risk of developing ovarian cancer in women with the BRCA1/BRCA2 genetic mutations before the age of 35-40 is still relatively low.

“We really encourage patients to keep their ovaries at least until they’re 35, and often until they’re 40,” he said. “Generally, if they’re done having children, there’s really no reason to keep their ovaries.”

Taking her time

Brittany Thompson wasn’t in a hurry to find out whether she was a carrier of the BRCA2 gene mutation.

At the time of her mother’s diagnosis, she was fresh out of college.

“At the beginning I was like, ‘Oh, yeah, I’ll test for it eventually,’ but I think in my mind because Tori was positive, I had the feeling that I’d be negative,” Brittany said.

It was three years after her mother’s diagnosis and two years after her sister’s mastectomy that Brittany was tested. She was in a serious relationship at the time.

“For me, it was being in my 20s, being at this age of like, you know, thinking, ‘Hey, I want to have a family. I want to have kids. I want to have a husband. But I can do this preventative treatment. It’s not the only option, and I want people to know that as well, but for women to know that it is OK. And your life is important enough to do that, to reduce the risk.”

She thought about breast-feeding any future children she might have, and how choosing a preventative double mastectomy would also mean she wouldn’t be able to do that.

“At that point, I felt like even though I would love to breast-feed my children, there are other ways that you can bond with them, and it was more important to me to cut down that risk,” said Brittany, now 26. “For myself, and for the people around me, having the mastectomy meant I’d be one less person to worry about as far as having cancer, you know? And so that was just very important to me.

“I’d rather be here with my kids than breast-feed them. It’s not an easy decision as far as that’s concerned.”

Brittany has no regrets about her  2015 double mastectomy. Even though her serious relationship ended, she’s hopeful she’ll meet a man someday who understands the decisions she made.

“I’m still very glad I went through what I did,” Brittany said. “Because down the line, if I start dating again, if that guy is meant for me, he’s going to realize that what I did was not for looks or anything like that, but for the health of being alive, and not having to worry.”

Her brother, Bryce Thompson, has yet to be tested, she said.

Beverly Thompson thinks he will, eventually, but noted that for men, the risk of a positive test for a BRCA gene mutation is less pressing. They still do have a higher risk than other men for developing breast cancer, and also are more likely to develop prostate cancer. But since he is still in his 20s and has four young sons, “he will for the family.”

Eric Fowler, the genetic counselor at the Cancer Treatment Centers of America who worked with Beverly, Tori and Brittany Thompson, said they have courage.

“I think that they are an inspiring family. They have taken information that was very difficult to learn … and shared it with their extended family” and the public to spread awareness, he said. “Their story is their own. It’s a story of hope, with what Beverly and her daughters have done with their surgeries, hopefully, they will live a long and healthy life.”

The Thompson women have, at least for now, loosened cancer’s grip.

Brittany Thompson is insistent: “For people who have BRCA (mutations) in their family, first and foremost, get tested for it because it is a serious thing. But also know there is hope. There are things we can do to be proactive about it.

“Women should know it is OK, and your life is important enough to do that to reduce the risk.”

Contact Kristen Jordan Shamus: 313-222-5997 or kshamus@freepress.com. Follow her on Twitter @kristenshamus. 

What every woman should know about inherited breast cancer risk

Q: Who should get genetic testing? 

A: Dr. Jeffrey Falk, a surgical oncologist with St. John Providence, says the following people should talk with their doctors about genetic testing for inherited cancers:

  • Anyone who’s already had a breast cancer diagnosis before age 50
  • Anyone who has already had ovarian cancer of any kind
  • Anyone with a strong family history of breast and/or ovarian cancer
  • Anyone who has a male relative with breast cancer  
  • Anyone of Ashkenazi Jewish ethnicity
  • Anyone diagnosed with a triple-negative breast cancer under the age of 60

Geneticist Eric Fowler from the Cancer Treatment Centers  of America added: “The main take-home message is that … people should share their family histories with their doctors. They should know their family histories. Who had cancer? How old were they when it happened, etc.? If it’s appropriate, consider genetic counseling.”

Q: What are the genes associated with breast cancer risk?

A: Women at high risk for inherited breast cancer should ask their doctors for the larger genetic testing panel that includes variants of the following genes, according to Fowler: 

APC, ATM, BARD1, BMPR1A, BRIP1, BRCA1, BRCA2, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PALB2, POLD1, POLE, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11 and TP53

Q: I’ve  already been through genetic testing, so I don’t have to worry, right?

A: The science is constantly evolving, and gene variants with links to different types of cancers are being identified all the time. Anyone who was initially tested before 2014, or tested only for the BRCA1 and BRCA2 mutations, ought to talk to their doctors about being retested. The recommendation for women at high risk for breast and ovarian cancer is to test for variants in all the genes listed above.

“What we encourage people to do — if they have had a test — is to keep checking in with someone in genetics at least every one to two years. The test has changed and it will continue to improve in the future,” said Fowler, who counseled the Thompson family. 

“It’s always good to revisit that and ask was something missed or even to discuss it when new family history happens.”

But, said Dr. Falk: “‘The issue now is insurance coverage” for retesting. So talk with your doctor if you’ve had the BRCA1/BRCA2 test, but not the full panel about whether coverage might be approved.

“From an insurance provider standpoint, it’s much easier to prevent a breast cancer than treat it,” he said. 

Q: How common and deadly is breast cancer

A: “Early breast cancer is a highly curable disease,” said Dr. Dennis Citrin, an oncologist with the Cancer Treatment Centers of America. “We say there are 240,000-250,000 cases every year. Approximately 40,000 women die every year. That means 200,000 will be cured of their disease. It’s very important for women to know that. But for a woman to give herself the very best chance of being cured, if she feels a lump, if she’ unsure or feels maybe there’s something wrong with her breast, she should seek expert medical care immediately.

“We’ve seen often women will delay up to a year before reporting their concerns to a doctor. That’s not in anyone’s best interest to do that. And remember a mammogram is not the way to investigate a suspicious lump in the breast. There’s a definite false negative rate in mammography. Don’t delay if you feel there’s a problem. To be cured of the disease is to have the tumor surgically removed and also to follow your oncologist’s advice regarding adjuvant treatment — drugs given with a goal of eliminating any microscopic disease that escaped from the tumor. If you follow the plan, your chances of a cure will be so much higher.”

GET A FREE MAMMOGRAM

Uninsured and under-insured women can get free digital mammograms during an event  next week in Southfield.

The free screening runs 8 a.m.-4 p.m., Monday-Saturday at Northland Radiology, 20905 Greenfield Road in Southfield. The event is being hosted by UAW-Ford for the fourth consecutive year. 

Though the goal is to offer the screening for women ages 40 and older, spokeswoman Talitha Johnson  said younger women at high risk for breast cancer also are welcome.

Those who have mammograms during the event will receive results by mail about a week later. Every participant will receive a free gift set, and any woman with a positive result will be referred for follow-up care. 

“An average of 50% of uninsured women in metro Detroit have not had a mammogram in the last two years,” said Pam Bradford, a Northland Radiology mammogram technician and radiology safety officer. “When detected early, the breast cancer survival rate is 97%.”

The radiology center can screen up to 30 women each day, Johnson said. To schedule an appointment for a  mammogram, call 313-392-7398. 

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