Seven years ago, Bryna Siegel Finer learned that she had a family history of breast and ovarian cancer, and was tested to see if she had the BRCA2 genetic mutation — a mutation that increases the risk of breast cancer by over 80 percent, and which occurs in about one in 40 Ashkenazi Jews.
Because she tested positive for the mutation, Finer, 36, was diligent about screening for cancer. She had a mammogram or MRI every six months, so in case she did develop cancer, she could catch it early.
A few weeks ago, testing revealed that Finer had developed stage 0 breast cancer.
But there is good news within this story: Finer’s cancer was caught at such an early stage that it is unlikely she will require further treatments, such as chemotherapy or radiation, following her double mastectomy and reconstructive surgery, which were scheduled for this week.
Knowing that she had a BRCA mutation may have saved her life, she said.
“The recommended age for starting mammograms is 40,” she said. “If I didn’t have this knowledge [of having the BRCA mutation], I wouldn’t have been having mammograms. Instead, I would have had this invasive tumor that could have killed me.”
That’s why, according to Finer, it is so important for Ashkenazi women with a family history of breast cancer to be screened for BRCA mutations.
Congregation Beth Shalom is hosting an awareness program called “Genes, Jews and Breast Cancer: What Every Jewish Woman (and Man) Should Know,” Tuesday, Feb. 5, at 7:30 p.m. A panel of medical experts will discuss how the BRCA mutations can be detected, and what people can do if it is found that a gene mutation is present.
If a woman has a BRCA mutation, she has a 55-85 percent risk of developing breast cancer during her lifetime, while the risk to the general population is about 12 percent. The risk to develop ovarian cancer is about 20-65 percent, compared to the general risk of about 1.5 percent. Each child of a BRCA carrier has a 50 percent risk of inheriting the mutation.
Even if one is unaware of a family history of breast or ovarian cancer, it can be wise to be tested for the gene mutation.
In 2010, Robin Karlin’s son, then 22, randomly received an email with an offer for a discount coupon for direct-to-consumer genetic testing from a company called 23andme.com. The price was right, so he took the offer, sending a sample of his saliva to the company. He tested positive for BRCA 1.
Most males who are BRCA carriers will not develop cancer, but they still have the same 50 percent risk as a female carrier to transmit the gene mutation to their children.
After a bit of research, Karlin knew that her son’s genetic disposition could have implications for other family members as well, and underwent genetic testing herself.
In January 2011, Karlin tested positive for the gene mutation, and after consulting with physicians, opted to have a prophylactic hysterectomy. She underwent a prophylactic double mastectomy a year later.
“Once I knew the gene came from me, my mother got tested, and she didn’t have it,” Karlin said. “I went to my dad, and he told me he had a first cousin who had ovarian cancer and died in her 40s. She was from a part of the family we didn’t keep up with.”
Not everyone is aware of the family history of all their relatives, so Karlin urges all Ashkenazi Jews to be tested for the genetic mutations.
“I think everyone should be tested,” she said. “I think it is something the Jewish community should be promoting.”
Dr. Adam Brufsky, co-director of the Comprehensive Breast Cancer Program of Magee-Women’s Hospital of UPMC, and the moderator of the upcoming Beth Shalom program, agrees.
“If an Ashkenazi woman is in her 30s or 40s, she should get tested, even if she has no family history,” he said.
Not all women choose to have genetic testing, Brufsky said, because they “just don’t want that sword hanging over them. They just don’t want to live with that.”
But Finer’s story is a case in point.
“Knowing about your genetic status gives you the power to actually prevent cancer,” she said.
“Genes, Jews and Breast Cancer” is the first program in Beth Shalom’s Health Initiative, a three-part series, also sponsored by the Jewish Healthcare Foundation, UPMC Cancer Center and the Fine Foundation. All programs are free and open to the public.
(Toby Tabachnick can be reached at firstname.lastname@example.org.)