This Christmas, ask for genetic testing. It could save your life.
Rose Brystowski, 68, had a choice to make. Others might have found it difficult. She found it easy.
Doctors discovered a lump during her sister's mammogram back in 2008 that came back positive for breast cancer. Genetic testing revealed both had the BRCA gene – one that puts someone at higher risk of developing breast and ovarian cancers – something they were previously unaware of. But it's not unsurprising: The pair are of Ashkenazi Jewish ancestry and their parents survived persecution in Europe during the Holocaust. Approximately 1 in 40 Ashkenazi Jewish people carry BRCA1 or BRCA2 mutations; it's about 1 in 400 people in the general population.
Brystowski, of Oak Park, Michigan, wasn't about to let her genetics forfeit her future. Doctors cut out her breasts, her ovaries, her tubes.
"My ovaries had retired," she says over a phone call. "They weren't doing me anything but potentially killing me. And I had my tubes and ovaries removed very soon after my diagnosis of BRCA2, no regrets, no second guessing."
Now, Brystowski recommends everyone look into genetic testing to find out their risks for diseases like her own – especially those who, like her, only had five living relatives growing up. Anyone looking into such testing, though, should seek support from a genetic counselor; you don't know what kind of information you might learn from such a test, especially if you go the DIY route like with 23andMe and Ancestry. There's no better time to talk about it with your loved ones than at the holidays with family gathered.
Still, "we can't rewind and go back," Brystowski says." "Knowing that I was a carrier, I was able to do things on my schedule."
'No one died a natural death'
Brystowski's father was a young rabbinical student in Poland. Russians drafted her father into the Russian army; he was severely wounded and ended up in a medical hospital in Uzbekistan. That's where he met her mother, who was from Lithuania. After the war, they found no survivors in their respective home countries. They later emigrated to Detroit through a refugee organization.
"They may have had extended families, but no one died a natural death," Brystowski recalls. That rendered their genetic history unknown. No one lived long enough to get sick.
Her sister's breast cancer diagnosis offered up clues, starting with her doctor's office asking about family history. It's something that's especially helpful for Holocaust survivor and WWII-era families as well as adoptees and others who might not otherwise know their genetic past.
The importance of family genetic history
Physicians have been testing for the BRCA genes for about 20 years, according to Dr. Dana Zakalik, oncologist and corporate director of Corewell Health’s Nancy and James Grosfeld Cancer Genetics Center in Michigan, and there have been tremendous advances in understanding what these genes do what risks exist when someone carries one of these gene mutations.
"We are much more comprehensive and holistic in our evaluation of patients that may be at risk for breast, ovarian, pancreas, prostate and other cancers," she says.
Patients are typically offered testing if they have either a personal or family history of cancer that meets certain criteria, Zakalik adds. Those criteria have broadened over the last few years; testing is usually done through a blood or saliva sample. Patients can consult their primary care physician for referrals to genetic counselors.
The BRCA genes were identified close to each other in the 1990s. The two are distinct genes in that they're on different chromosomes, but they both cause a syndrome called hereditary breast and ovarian cancer syndrome. The prostate and pancreas are now recognized to be part of the syndrome, too.
BRCA1 typically has a higher breast and ovarian cancer risk, and whereas BRCA2 more of a pancreas, prostate and melanoma risk. Scientists developed drugs called PARP inhibitors that treat cancers stemming from the BRCA gene mutations such as breast and ovarian cancer.
"It's really important for us in the clinic to take family history and ask ancestry, because the probability of finding something is much, much higher in certain populations," Zakalik adds.
Important: They found a lump. Doctors said not to worry. These are the stories of men with breast cancer.
'I have more to do'
Both Brystowski and her brother were tested for BRCA2; he was negative, she was positive. She was worried about her ovarian cancer risk, especially since she wasn't planning to have more children. She also got a mastectomy.
"I had taken the step that I want all women to think about really seriously, because this isn't about just looking good," she says. "This is about being there for your family." Of course, everyone can discuss their own reconstruction options with their physician.
Now she's seen all her kids graduate college and watched two get married. She has six grandchildren. "I'm not done," she says. "I have more to do, and I'm not leaving it up to genetic roulettes."
In case you didn't see: At 25 she found out she had the breast cancer gene. Now, she's grieving motherhood.
'Genetic destiny is not written in stone'
This holiday season, Brystowski hopes families take time to talk about health instead of politics at family gatherings. Zaklaik agrees: "We are now in an era where we know that genetic testing really leads to good outcomes, meaning that knowledge is power." That knowledge, however, has certainly led to uncomfortable conversations when medical information is intertwined with unwelcome personal details about someone's parents they didn't know about, for example. Yet another reason to speak with a genetic counselor.
Plus, finding out you might have one of these genes that causes illness may be scary. But remember that "genetic destiny is not written in stone," Zakalik says. "That means that these genes, once you know you have them, are very manageable. We can mitigate or lower risk over a person's lifetime."
For young people, it may mean diet and lifestyle changes, getting screened for cancers at younger ages and starting on medications to lower risk.
Two of Brystowski's four children have tested for the gene. Her daughter tested negative, and the day she was getting her results, Brystowski remarked how calm she was. She said: " 'I saw how you handled it, Mom. I'll be OK.' " Brystowski couldn't have been more proud.
This article originally appeared on USA TODAY: BRCA gene testing saves Holocaust survivor child