What we need to know: It’s all in the genes – BRCA, Breast Cancer and you

Sandy Kogut and Dr. Carey Johnson at the "It's all in the genes: BRCA, Breast Cancer and you" event last month in Calgary with moderator Hannah Giesinger, Emerging Gen Coordinator for Calgary Jewish Federation and the Paperny JCC. (Photo by Danielle Braitman, Calgary Jewish Federation.)

by Maxine Fischbein

(AJNews) – Sandy Kogut has always been fastidious about breast self-examination. She traces her early awareness to television commercials aired in her native New York when she was about 10 years old. To this day she recalls the image of a woman standing in her shower with her back to the camera as she checked her breasts for signs of tumors.

Kogut knew that this was something she could not discuss with her mother. In those days, many spoke of “the C word” in hushed tones, avoiding open conversation.

Fast forward to the beginning of the COVID-19 pandemic when Kogut, who had lived in Montreal and then settled in Calgary, marked her 64th birthday with her monthly breast check. To her surprise, she discovered a lump.

Kogut and Calgary-based medical geneticist Dr. Carey Johnson spoke to members of the Jewish community on March 23 as the Calgary Jewish Federation, Calgary JCC and Beth Tzedec Congregation presented It’s all in the Genes: BRCA, Breast Cancer and You, a free program held at the JCC.

The importance of such programs cannot be overstated, because one in 40 Ashkenazi Jews – including those without a cancer history – carries a mutation of the BRCA gene. By contrast, only one in 400 is similarly affected in the general community.

Dr. Johnson earned his medical degree at the University of Calgary and did his post-doctoral training at the Stephen Spielberg Research Centre and Cedars-Sinai Medical Center in Los Angeles.

Kogut’s cancer was not caused by a BRCA mutation, but she is passionate about educating the Jewish public about those risks and spreading the word about Sharsheret, the American-based Jewish breast cancer organization that has supported her throughout her cancer journey.

Johnson shared good news about advances made in genetic testing and cancer research, leading to the increased possibility of early detection and targeted treatment options.

“We understood, even in the 60s and 70s, that there were families that were really hit by breast and ovary and, for men, pancreas and prostate cancers, but we didn’t have really an understanding of why this was happening.”

During the 80s and 90s, researchers from Michigan, Los Angeles, St. Louis and Seattle got together and studied a bunch of families, Johnson said, adding that in 1995 the discovery of BRCA 1 and BRCA 2 mutations was announced.

“Right off the bat we discovered that [mutations in] these genes were more common in the Jewish population,” noted Johnson.

Community testing took place in Montreal, Toronto, Winnipeg and Vancouver between 2000 and 2005, Johnson said.  As a result, individuals and families with the mutation were identified.

During the following decade, researchers discovered 28 additional genetic mutations responsible for inherited cancers, noted Johnson. “A few of those are more common in the Jewish population, but most aren’t.  Most are at a frequency that is the same as in the non-Jewish population,” he added.

In 2015, broad testing became available, but the price tag was $5,000 per test. Six months later it was around $300.

Qualification for a publicly-funded blood test in Alberta hinges on specific criteria including diagnosis of breast cancer in a woman before the age of 35; diagnoses of breast cancer in two women in the same family prior to the age of 50; ovarian cancer in the family; and male breast cancer in the family.

“We have the most restrictive testing criteria, I think, in the world,” Johnson said, alluding to political and economic reasons. “Fortunately . . . private testing is becoming incredibly easy,” and the simple but very accurate saliva test currently costs $317.00.

Some 30 genes are tested in the current panel, Johnson said, with each gene tested 800 times. Results are typically returned in about four weeks. When individuals are discovered to have the BRCA 1 or BRCA 2 mutation, it is necessary to “…curate follow-up for that patient,” Johnson said.

A woman between the ages of 25 and 90 with a BRCA 1 mutation has an 80 percent risk of developing breast and a 40 percent risk of developing ovary cancer, said Johnson, adding that breast cancers can occur as early as age 20 while the vast majority of ovarian cancers occur after the age of 35.

Nearly all ovarian cancers start in the fallopian tubes, the connection between the ovaries and the uterus, Johnson said. Removal of the fallopian tubes is recommended to women between the ages of 30 and 50 who have tested positive for the BRCA mutation. Breast cancer is a different story, he says. Fortunately, MRI screening is accurate and can identify cancers “in the sub-centimetre size.”

“The idea that a double mastectomy is the only option for people with BRCA mutations is not 2023.”

“The idea that a double mastectomy is the only option for people with BRCA mutations is not 2023,” Johnson said, adding that often women between the ages of 20 and 50 who have the BRCA mutation choose to do MRI on a yearly basis. Some decide they don’t want any more screening and choose mastectomy instead.

Johnson says his office contacts thousands of women every year to organize MRIs. “When we phone them, we are reminding them of their risk…. The psychiatric impact of us telling them about the risk every year, it’s tough to overestimate that,” he added.

It is different for the woman who has completed her double-mastectomy at age 55, Johnson said. “When we phone, she doesn’t even remember who we are…. That’s maybe a tribute to reasonable care.”

BRCA mutations can pass from both women and men to their children. Men are more often silent carriers.

“If you look at a brother and sister who have BRCA 2, that woman has about a 60 or 70 percent likelihood of developing breast cancer during her life. She has about a 20 percent chance of getting ovary cancer during her life, most of it after age 50. But her brother with the same gene, his pancreatic cancer risk is about 10 percent. His breast cancer risk is about 10 percent, and his prostate cancer risk is about 25 percent.”

“We see thousands of prostate cancers. We see many, many pancreatic cancers, and for BRCA 2, the risk for breast cancer for those men is about seven percent. So, one in 14 men with BRCA 2 will get breast cancer,” Johnson said.

The good news is that prostate, pancreas and breast cancers are “. . . sensitive to biologic therapies.”

Oncologists’ arsenals include PARP inhibitors and immunotherapy, said Johnson, adding that it is therefore vital for individuals to be tested so that they can qualify for the best possible treatments for them.

According to Johnson, women are the best allies in the fight against cancer. “In our office, we identify the women in the family who are the pain in the ass,” he quipped. “They are the ones who are going to force testing.”

Testing, adds Johnson, “helps to sort out a family’s story.”

The index patient – the first member in a family discovered to have a BRCA gene – is “like a ripple in a pond,” he said.

“[With testing] we can protect those people with the [mutation] and we can provide relief for those people who don’t have it.”

Genetic testing is accurate, enabling doctors to make accurate predictions and patients to reap the benefits of treatments that are “life-changing for many families,” Johnson said.

He strongly recommends testing for families within the Jewish community that have a cancer history. “We have 30-year data on people who have been followed up,” he explained. “The chances of dying are far less than for those in the general population. So, you go from a cancer risk that is very, very high to a death risk that is very, very low.”

Johnson said those wishing to be tested should do so in a clinical setting.

“There are about 84,000 potential mutations.  23andMe tests three. So, a 23andMe test does not tell you about your breast, ovary, colon or anything else. You need a medical grade, proper test to give you those answers,” Johnson said.

He urges those who tested early for the BRCA mutations to retest. “Our BRCA testing 20 years ago did about 80 percent of BRCA 1, 80 percent of BRCA 2, but did not do the other 28 genes.”

With the genetic puzzle pieces in place, individuals with the mutations are far more likely to access effective treatment. “Immunotherapy, for those cancers that are sensitive, is miraculous,” Johnson said. “Part of what we do is test the cancers…. If a cancer carries DNA markers, then we can predict [it] will be sensitive to immunotherapy.”

“Cancers are successful in our bodies because they hide…. Your body should kill it because it’s foreign, but a cancer is smarter than that, so it covers itself with a cloak, and your body just passes it by,” he added.

“Immunotherapy does two things. It takes that cloak off of the cancer, so it presents that cancer to your immune system…. It allows your immune system to keep a memory of the cancer. So, it’s both a treatment and a vaccination against your own cancer.”

Did you know?

Both men and women can carry BRCA mutations.

Each parent with the mutation has a 50 percent chance of passing it on to their biological children.

Ashkenazi Jews are also disproportionately affected by genetic mutations that can cause other life-altering diseases including Tay Sachs, Gaucher disease, Canavan disease, Cystic Fibrosis and Familial Dysautonomia.

Over time, the expansion and contraction of the Ashkenazi population, due to factors including geographical and social isolation, led to the concentration of some genetic mutations and the absence of others.

Sephardic Jews may also have an elevated risk of inheriting mutations predisposing them to diseases including breast and ovarian cancers.

For more information about breast and ovarian cancers, BRCA 1 and BRCA 2, and the support services provided free of charge to women and their families, go to https://sharsheret.org/

Maxine Fischbein is a Local Journalism Initiative Reporter.



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