FORCE’s eXamining the Relevance of Articles for Young Survivors (XRAYS) program is a reliable resource for breast cancer research-related news and information. XRAYS reviews new breast cancer research, provides plain-language summaries, and rates how the media covered the topic. XRAYS is funded by the CDC.
Breast cancer survivors
Women under 45
Women over 45
Men with breast cancer
Metastatic breast cancer
Triple negative breast cancer
BRCA mutation carriers
Her2+ breast cancer
Special populations: Jewish women diagnosed with breast cancer
Experts who have different conclusions on the same set of data examining expanded genetic testing in Jewish people who test negative for a BRCA founder mutation.
Data from research studies can be interpreted from multiple perspectives, and debate and discussion are standard within the scientific community. Respectful discussions add to our understanding of the information and its context. However, disagreement by experts on interpretation of research results can lead to conflicting clinical recommendations. This can be confusing to patients.
In this XRAYS follow-up, we update our 9/13/17 XRAYS review of the study by Walsh and colleagues on genetic testing in Jewish women with breast cancer. The original study was published in JAMA Oncology in July of 2017.
The original research team asked if there was benefit of additional genetic testing for Jewish women with breast cancer beyond testing for the 3 founder mutations. They found that 4.2% of the Jewish women tested had mutations that would go undetected if they had only had testing for the 3 Jewish founder mutations. Walsh et al. suggested that Ashkenazi Jewish women consider expanded panel testing to provide the most complete information about cancer-causing mutations.
In a recent issue of JAMA Oncology published on May 3, 2018, genetics experts Dr. Steven Narod and colleagues suggested a different interpretation of the study data. They suggest that complete testing of
BRCA1 and BRCA2 is sufficient in the Ashkenazi Jewish population and that sequencing other genes adds little value.
Two of the original study authors, Drs. Tom Walsh and Mary-Claire King, responded to this alternative interpretation. They replied to Narod and colleagues by stating that sequencing additional genes provides the opportunity for increased surveillance and preventive options for women who test positive for mutations outside of
BRCA1 and BRCA2.
At the center of these differing perspectives are three types of mutations:
Science is a process we use to better understand our world, not a static set of information. New information is constantly being accumulated and incorporated into the knowledge base. As more information is gathered we will have a better more complete understanding of which mutations are the most deleterious and which have more benign effects.
These two groups of researchers do not disagree with the data; the number and type of mutations found within the genes evaluated is not in question. They do disagree about the significance of the mutations and whether detecting them is useful, actionable knowledge that will improve the outcomes of patients.
It is important for people with breast cancer to know:
While detection of a mutation is now straightforward, it is less clear how to interpret the impact of some mutations on breast cancer risk. The original research study and accompanying commentaries highlight the importance of speaking with a genetics expert before and after genetic testing.
Questions to ask your health care provider
Share your thoughts on this XRAYS article by taking our brief survey
Walsh T, Mandell JB, Norquist BM, et al. “Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.” JAMA Oncology. 2017; 3(12):1647-1653.
Narod S, Sopik V, Cybulski C. “Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.” JAMA Oncology. Published online May 3, 2018. doi:10.1001/jamaoncol.2018.0595
Walsh T and King M-C. “Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2—Reply.” JAMA Oncology. Published online May 3, 2018. doi:10.1001/jamaoncol.2018.0616
FORCE Information: Breast cancer risk
FORCE Information: Genetic counseling
FORCE Information: Genes associated with hereditary cancer
FORCE Information: Genetic testing for hereditary cancer
FORCE Information: Should I get genetic testing?
FORCE XRAYS: Breast Cancer Risk
FORCE XRAYS: Genetic Testing
FORCE XRAYS: Racial and Ethnic Differences
FORCE XRAYS: Screening