In November 2019, Karen Schatten Shmerling was diagnosed with BRCA 2 at age 61, much to her surprise. She related, “Only because my daughter, Michelle, volunteered for a BRCA study held by JSCREEN. JSCREEN has literally saved my life and Michelle’s.”
Michelle is a physician’s assistant in oncology at Emory University, the location of JSCREEN. She met all qualifications for the study, no BRCA, no ovarian or breast cancer in the family. So, she said, “Why not take the test?” After a saliva test three weeks later her results came back, BRCA 2. Michelle will, at some point, prophylactically have her breasts removed and have a hysterectomy.
BRCA1 (Breast Cancer gene 1) and BRCA2 (Breast Cancer gene 2) produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent.
While the prevalence in the general population is about 0.2 to 0.3 percent (or about 1 in 400), about 2 percent of people of Ashkenazi Jewish descent carry a harmful variant in one of these two genes, according to the National Cancer Institute.
Initially not believing Michelle’s results, Karen and husband, Dr. Ricky Shmerling, anesthesiologist, both tested to find that Karen also had the gene. After talking with her breast surgeon and genetic counselor, she chose to have a double mastectomy in 2020. She relayed, “G-d was giving me a second chance to live with the BRCA mutation, as I needed a hysterectomy after my third child, Elena, was born. Thirty years ago, BRCA could not be detected so I had no idea this hysterectomy would be saving my life! Elena tested negative for BRCA, thank G-d!”
Surgery is not the only answer. If someone has the gene without cancer, there could be other options. Monitoring every six months, alternating between a mammogram/sonogram and MRI is one course of action. Shmerling added, “Personally, I didn’t want that worry every day, so I chose the right decision for me. Recovering from any surgery is hard, but persistence for recovery and PT for my upper body gave me the strength I needed to do everything again in three months, including my dancing.”
Shmerling is the coach for the WNBA Senior Dream Supreme Dance team. “Thankfully, no more mammograms are needed, and I’m just being monitored for the other things, like the higher incidence of melanoma and pancreatic cancer, that come with this BRCA gene. There are a few lucky people who have BRCA and can go a lifetime without those cancers. I did not want to find out!”
Now, at 64, she is still dancing her team into the 12th year. She concluded, “I encourage everyone, male or female, to do genetic testing. If something comes up, you have the choice before cancer decides for you.”
JSCREEN can help with ReproGen, preconception genetic testing and CancerGen, cancer genetic test for 63 cancers, including BRCA. Contact Karen Grinzaid, (KGrinza@emory.edu), the Executive Director/Genetic Counselor for JSCREEN.
Know the Stats
Source: National Cancer Institute
* A woman’s lifetime risk of developing breast and/or ovarian cancer is markedly increased if she inherits a harmful variant in BRCA1 or BRCA2, but the degree of increase varies depending on the mutation.
* Breast cancer: About 13 percent of women in the general population will develop breast cancer during their lives. By contrast, 55 percent to 72 percent of women who inherit a harmful BRCA1 variant and 45 percent to 69 percent of women who inherit a harmful BRCA2 variant will develop breast cancer by age 70–80. The risk for any one woman depends on several factors, some of which have not been fully characterized.
* Ovarian cancer: About 1.2 percent of women in the general population will develop ovarian cancer sometime during their lives. By contrast, 39 percent to 44 percent of women who inherit a harmful BRCA1 variant and 11 percent to 17 percent of women who inherit a harmful BRCA2 variant will develop ovarian cancer by age 70–80.
- Health and Wellness
- Marcia Caller Jaffe
- Karen Schatten Shmerling
- BRCA 2
- Emory University
- Breast Cancer gene 1
- Breast Cancer gene 2
- Ashkenazi Jewish descent
- National Cancer Institute
- Dr. Ricky Shmerling
- WNBA Senior Dream Supreme Dance team
- Pancreatic Cancer
- Karen Grinzaid
- breast cancer
- Ovarian Cancer