BRCA gene mutations affect young Jewish women of Pittsburgh

BRCA gene mutations affect young Jewish women of Pittsburgh

Faygie Sacks knew there was breast cancer on her mother’s side of the family and that three women had died from ovarian cancer on her father’s side, including her grandmother. So, at age 38, the Pittsburgh native and mother of three met with a genetic counselor to decide if she was a candidate for genetic testing. She and her mother filled out a family health history tree. She was approved for the blood test for BRCA gene mutation.

When the results came back, Sacks had tested positive for the BRCA 1 genetic gene mutation: the direct link was her grandmother on her father’s side. Her father was the carrier.

BRCA1 and BRCA2 are genes that produce tumor suppressants. If these genes mutate, there is a higher risk of breast and ovarian cancers. A man or woman who is a carrier of a mutated gene would not know it unless they were tested.

Sacks and her mother, Rachie Sacks, “were under the impression that feminine cancers come from the mother’s side.” Not true. The BRCA mutation can be inherited from the father or the mother. They thought men can’t get breast cancer. Not true. Men with the BRCA gene mutation are at increased risk for breast, prostate and pancreatic cancers.

“One in 40 Jews of Ashkenazi descent carries a BRCA gene mutation, nearly 10 times the rate of the general population, making Jewish families significantly more susceptible to hereditary breast cancer and ovarian cancer” according to Elana Silber, director of operations at Sharsheret, a national organization dedicated to addressing the concerns of Jewish women and families living with or at increased risk for breast cancer and ovarian cancer.

These are not recessive genes: Unlike typical Jewish genetic diseases, which only appear if both parents have the gene, BRCA 1 and BRCA2 only require one parent to pass on the mutated gene for each child born to have a 50/50 chance of inheriting it. Even if only one grandparent is Ashkenazi, the grandchildren can still be at risk.

A woman with a BRCA2 mutation has a 50 to 70 percent chance of having breast cancer and a 40 to 50 percent chance of having ovarian cancer. Ovarian cancer has no early symptoms, it is hard to detect and very aggressive. If a woman has the BRCA1 gene mutation, she is 80 percent more likely to get breast cancer. BRCA mutation cancers are usually very aggressive and often strike younger women.

Sacks was given three options: intensify screenings; take preventative drugs; or have surgical removal of breasts and ovaries. Sacks had a choice to make.

Rachael Hirsch grew up in Pittsburgh and made aliyah several years ago. She knew that her mother and grandmother had had breast cancer and that many members of her mother’s family had other types of cancer but there was no history of cancer in her father’s family. Hirsch‘s mother, Tova Hirsch, had tested negative for BRCA.

Hirsch volunteered for a study at Shaare Zedek Medical Center in Jerusalem. It didn’t require submitting a family history or meeting with a genetic counselor prior to the test. A random sampling of people were recruited for the study.

“I was floored when they told me I was a carrier,” she said. The center thought perhaps her mother’s test had been incorrect, so the whole family — mother, father, and three adult daughters — came in to be tested. Two of the three daughters, and their father were determined to be carriers of BRCA2. The gene mutation came from their father. Hirsch had one child; her sister, Noa Choritz, had three. Both were in their early 30s. Hirsch and Choritz had a decision to make.

JGenes Pittsburgh is a local organization that provides preliminary assessments, community education and peer support for all Jewish genetic diseases. Director Dodie Roskies offered this advice: “The most important thing is to be aware. We must keep tabs on our generational medical history: our parents and our grandparents, in order to know how much of a risk we [face].”

Silber of Sharsheret agreed. “Anyone who thinks they are at increased risk should speak to their health care professional about genetic counseling to determine if they are a candidate for genetic testing and so they can understand the results of their testing.” They should also check with their insurance company to determine coverage, she added.

Back in Pittsburgh, Sacks spoke with peers who had faced a similar choice, to a physician friend, and to family. She opted for surgery. “I felt this entire time a higher hand was guiding me.”

Just after her 39th birthday, Sacks had a prophylactic double mastectomy and full hysterectomy at Magee-Womens Hospital of UPMC. From the moment she received the diagnosis until her surgery was seven weeks. In between they went to Israel so Sacks could daven at the Kotel. “I needed to do a lot of davening. I needed time with God.”

In Jerusalem, Hirsch opted for a preventive mastectomy, scheduled for next year, but keeping her ovaries. Meanwhile, she is getting tested every six months. “I want to be [alive] for my son’s bar mitzvah, to be there for his wedding.”

Her sister Noa Choritz had a preventative bilateral mastectomy within the year of the diagnosis and is up and running with her life. “It’s a practical decision. I don’t have time to get breast cancer. It’s far more convenient to [do the surgery] on my own time frame.

Hirsch sees medical advances now giving women “the opportunity to come from a place of strength,” and not wait until they have breast cancer and need radiation and chemotherapy. “Come at it from a place of power. We come from a great line of strong Jewish women: Sarah Imenu and Esther haMalka. We have an inner strength.”

Sacks agreed. “It’s important to be proactive about your health and to take advantage of what medical research has to offer.”

Simone Shapiro can be reached at