1 in 40 Ashkenazi Jews Carry Genetic Cancer Defect
Those with Ashkenazi Jewish backgrounds are much more likely to be diagnosed with breast, ovarian, prostate and pancreatic cancers.
People who have an Ashkenazi Jewish background are much more likely to be diagnosed with breast, ovarian, prostate and pancreatic cancers. That warning was made loud and clear to about 100 people – mostly women — at a program sponsored by Hadassah Greater Atlanta earlier this month.
Held at Congregation Or Hadash, the evening highlighted a pilot program launched two months ago to provide free genetic testing for a defect that could lead to these cancers.
Emory’s JScreen has already signed up 250 of the possible 500 participants for the program known as the PEACH BRCA Study. PEACH stands for Program for the Evaluation of Ashkenazi Cancer Heritability. BRCA 1 and BRCA 2 are the genetic defects that could cause the cancers. In the general population, the BRCA defect carrier rate is 1 in 500. Among Ashkenazi Jews, the carrier rate is one in 40.
Rochelle Schube is a BRCA 1 carrier who chose preventative surgery to lower her chances of a cancer diagnosis. “Knowing your genetic status may save your life.” Schube’s younger sister was diagnosed with breast cancer. Several members of her family are also BRCA carriers.
BRCA genetic defects are passed down in families. The breast cancer risk by age 70 is only 12 ½ percent for women without the genetic defect. With the genetic defect, it’s anywhere from 59 to 87 percent. A diagnosis of ovarian cancer by age 70 rises from 1 to 2 percent in women without a BRCA genetic defect, to as high as 54 percent in women with the genetic defect, explained Dr. Jane L. Meisel, medical director for the PEACH BRCA Study.
Knowing that one is a BRCA carrier, Meisel stated, “informs your options.” In addition to preventative surgery, one can receive increased cancer monitoring.
JScreen, which has been testing for genetic diseases in the Atlanta Jewish community for years, decided to add the study to test for the BRCA genetic defect “to make this test affordable and accessible to any Ashkenazi Jew who wants it regardless of his or her family history,” said Karen Arnovitz Grinzaid, executive director of JScreen, a national online genetic disease screening program based out of Emory University School of Medicine’s Department of Human Genetics.
As a research study, the PEACH BRCA study is asking three questions, Grinzaid explained. “Do people want testing? Is the carrier rate one in 40 without a family history? And, how can JScreen offer testing and follow-up nationally?”
“We’re not sure what people’s reaction will be,” Grinzaid acknowledged. “Do people want to have the information” of whether they are BRCA carriers? If they learn they are, they will be faced with decisions about whether to take preventative measures to minimize a cancer diagnosis.
One of the program’s panelists was Stacey Davis, an Atlantan who decided to get the BRCA test in 2017 and learned that she was BRCA 2 positive. “As shocked as I was to hear, it would have been worse to hear I had cancer,” she said. A mother of two young girls, Davis chose to have a full hysterectomy and preventative double mastectomy to drastically lower her chances of a cancer diagnosis. “It’s a personal decision, but hopefully it will give you peace of mind.”
To be eligible for the free testing offered by JScreen, a person needs to have at least one Ashkenazi or Eastern European, Jewish grandparent, be at least 25 years old, reside in the metro Atlanta area, and have no significant personal or family history of BRCA-related cancers. To determine eligibility, one should go online at www.jscreen.org/BRCA. If eligible, participants will provide a saliva sample for the genetic test. Results either way would be provided by a genetic counselor.
If the result is negative and the participant isn’t found to be a BRCA carrier, “the chance of a BRCA mutation is low, but not eliminated,” Grinzaid said. If the outcome, however, is positive, the counselor will help the participant review their options for cancer risk reduction and early detection. The counselor will also help the participant find local cancer specialists for monitoring and follow-up, as well as help them identify relatives around the country who might be at risk for the mutation.
One goal of the Atlanta pilot program is to “find out how to do this on the national level,” Grinzaid added.
The PEACH BRCA Study was funded by The Marcus Foundation, the Florence and Laurence Spungen Family Foundation, the Kay Family Foundation Fund of the Community Foundation for Greater Atlanta, and the Jewish Women’s Fund of Atlanta.
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