Study: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer?

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This study is about:

The benefit of doing additional genetic testing for Jewish breast cancer survivors who tested negative for the three common Jewish BRCA mutations. Researchers wanted to examine if additional genetic testing would find other inherited mutations within BRCA1, BRCA2, or in other genes that also increase risk of breast cancer. 

Why is this study important?

A founder mutation is a mutation that is common in people who come from a distinct population. In the Ashkenazi Jewish population, three founder mutations, two in BRCA1 and one in BRCA2 have been identified. Ashkenazi Jewish women who carry one of these mutations are at much greater risk of being diagnosed with breast and/or ovarian cancer than Ashkenazi women who do not carry a founder mutation. Having this information can help guide women in their breast cancer treatment choices. But what about Ashkenazi Jewish women diagnosed with breast cancer who test negative for the BRCA founder mutations?  What is the chance they may have inherited a unique BRCA mutation or a mutation in another breast cancer gene? How does knowing this additional genetic information affect their medical decisions and health outcomes? 

Study findings: 

  • This study tested 1,007 Ashkenazi Jewish women with breast cancer for mutations in 23 different breast cancer genes.
    • 903 of these women did not carry any of the three BRCA founder mutations. 
      • 7 women (0.8%) carried a unique mutation in BRCA1 or BRCA2.
      • 31 women (3.4%) carried a harmful mutation in another breast cancer gene.

What does this mean for me?

  • If you are an Ashkenazi Jewish women diagnosed with breast cancer:
    • Genetic testing may affect your treatment decisions.
    • If you have never had genetic testing, speak with your health care provider about genetic counseling and testing for a BRCA or other inherited mutation which can cause breast cancer.
    • If you had genetic testing only for the three BRCA founder mutations commonly found in Jewish people and you tested negative, you may benefit from expanded genetic testing. 
    • Expanded genetic testing is often covered by insurance and low-cost options are available for those without insurance coverage. 
    • Even if you have no additional family history of cancer, you may benefit from genetic testing. 
  • If you have been diagnosed with breast cancer and you are not of Ashkenazi Jewish descent, you may benefit from genetic counseling and testing. Although BRCA mutations are especially common in Jewish people, mutations have been found in people of every race and ethnicity. 

Posted 9/13/17

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Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC. JAMA Oncol. 2017. Jul 20. doi: 10.1001/jamaoncol.2017.1996. 


FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.

This article is relevant for:

Jewish women with breast cancer who previously tested negative for the three most common BRCA mutations

This article is also relevant for:

Breast cancer survivors

Women under 45

Women over 45


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Expert Guidelines

The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. If you have been diagnosed with breast cancer, you should speak with a genetics expert about genetic testing if any of the following apply to you:     

  • You have a blood relative who has tested positive for an inherited mutation 
  • You have any of the following:  
    • Breast cancer at age 50 or younger  
    • Male breast cancer at any age
    • Ovarian cancer at any age  
    • Triple-negative breast cancer at any age 
    • Two separate breast cancer diagnoses
    • Eastern European Jewish ancestry and breast cancer at any age 
    • Metastatic breast cancer 
    • Testing of your tumor shows a mutation in a gene that is associated with hereditary cancer
    • HER2-negative breast cancer and high risk for recurrence
    • Lobular breast cancer and a family history of diffuse gastric cancer


  • You have one or more close family members who have had:  
    • Young-onset or rare cancers 
    • Breast cancer at age 50 or younger
    • Triple-negative breast cancer
    • Male breast cancer, ovarian cancer, pancreatic cancer, or metastatic prostate cancer at any age
    • Two separate cancer diagnoses 
    • Prostate cancer at age 55 or younger or metastatic prostate cancer 

The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 that recommend all women diagnosed with breast cancer have access to genetic testing for inherited mutations in breast cancer genes. 

If you are uncertain whether you meet the guidelines above and you are interested in or considering genetic testing, you should speak with a cancer genetics expert


Updated: 11/22/2021

Questions to Ask Your Doctor

  • I previously tested negative for the BRCA founder mutations. Should I be tested for other BRCA mutations?
  • Should I have panel testing for mutations in other, non-BRCA breast cancer genes?
  • If I test positive for a mutation in other breast cancer genes, what does that mean for me and my family as far as screening, cancer prevention, and treatment choices?
  • My insurance will not pay for genetic testing. Are there other options for me to get testing? 

Open Clinical Trials

Below are clinical trials that include genetic counseling and testing.

Other genetic counseling or testing studies may be found here.


Updated: 12/05/2021

Peer Support

The following organizations offer peer support services for people with, or at high risk for breast cancer:

Updated: 01/08/2022

Find Experts

Health care providers who are specially trained in genetics can help you more clearly understand your risk for hereditary cancer. The following resources can help you locate a genetics expert in your area.

  • The National Society of Genetic Counselor website offers a searchable directory for finding a genetic counselor by state and specialty. To find a genetic counselor who specializes in cancer genetics, choose "cancer" under the options "Area of Practice/Specialization." 
  • InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference. 
  • JScreen is a program from Emory University that provides low-cost genetic counseling and testing. 
  • Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone. 
  • The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors. 
  • FORCE's toll-free helpline at: 866-288-RISK, ext. 704 will connect you with a volunteer board-certified genetic counselor who can answer general questions about genetic testing and cancer and help you find a genetics expert near you. 
  • FORCE Peer Navigator Program will match you with a volunteer who has undergone genetic counseling and can help you navigate resources to find a genetic counselor near you.
  • Ask your doctor for a referral to a genetics expert. 

Updated: 11/12/2021

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Study background:

Both men and women who carry a BRCA mutation have a significantly increased lifetime risk of several types of cancer. People of any race or ethnicity can test positive for a BRCA1 or BRCA2 mutation.  Between 1 in 400 and 1 in 800 people in the general U.S. population has an inherited BRCA mutation. That number increases to about 1 in 40 among people of Eastern European Jewish descent. However, many Ashkenazi Jewish women who have been diagnosed with breast cancer test negative for the three founder mutations. In the past, when the cost of genetic testing was much higher, Jewish people with breast cancer sometimes might only undergo limited genetic testing looking only for the three most common founder mutations. Drs. Tom Walsh, Mary-Claire King, and colleagues published a retrospective study in JAMA-Oncology looking at mutations in known and suspected breast cancer genes among the New York Breast Cancer Study Participants. They wanted to know if these women would benefit from genetic sequencing of all breast cancer genes, including BRCA1 and BRCA2, in addition to targeted testing for the Jewish BRCA founder mutations.

Researchers of this study wanted to know:

How common are unique mutations in BRCA1 and BRCA2 and how common are mutations in other breast cancer genes in Ashkenazi Jewish women diagnosed with breast cancer?

Population(s) looked at in the study:

Researchers looked at DNA and data collected from 1996-2000 from 1,007 participants in the New York Breast Cancer Study (NYBCS). All participants were Ashkenazi Jewish women diagnosed with invasive breast cancer, and were not selected based on family history or age at diagnosis. Their DNA had previously been studied for the three common Jewish BRCA mutations. In this new study, researchers used a panel test to identify unique mutations in BRCA1, BRCA2, and other genes known to increase breast cancer risk. They looked at results based on BRCA status, family history, and age at diagnosis.

Study findings:

Of the 1,007 patients in the study:

  • 104 women (10.3%) had a BRCA1 or BRCA2 founder mutation.
    • These women were more likely to be younger at age of diagnosis and more likely to have a family history of breast or ovarian cancer than were patients with no founder mutation.
  • 903 (90%) had none of the three Jewish founder mutations in BRCA1 or BRCA2.
    • Of these 903 women, 865 women tested negative for any known mutation associated with breast cancer
  • A total of 142 women in the NYBCS tested positive for any mutation. Of these women:
    • 104 (74%) had a BRCA founder mutation
    • 7 (5%) had a non-founder BRCA mutation
    • 31 (22%) had a mutation in another gene
      • 29 of these mutations were in the CHEK2 gene
        • Of the 29 CHEK2 mutations, 24 were a known Ashkenazi Jewish founder CHEK2 mutation, c.1283C>T. The other five CHEK2 mutations are common in people of European descent.
      • 1 mutation each was found in BRIP1 and NBN
    • Approximately half of women with an inherited mutation in a breast cancer gene had no family history of breast or ovarian cancer.


  • This study looked only at Ashkenazi Jewish women with invasive breast cancer. Women who were not Ashkenazi Jewish, had non-invasive breast cancer or ovarian cancer, or were cancer-free were not studied.
  • Researchers tested only some known breast cancer genes for mutations. Mutations in other cancer genes, such as genes for Lynch syndrome, were not examined.
  • The panel test used in this study examined 23 different genes. Although scientists know a lot about many of them, they are still studying these and other genes, meaning cancer risk information is limited and expected to change with further research.
  • There are likely mutations that increase risk of breast cancer in other, unknown genes


The results of this study suggest that Ashkenazi Jewish women who have been diagnosed with breast cancer and have tested negative for the three BRCA founder mutations should talk to their health care provider to see if they should consider genetic testing for other mutations in BRCA1, BRCA2 as well as other breast cancer genes.  Share this study with your health care provider to see if additional genetic testing makes sense for you.

Share your thoughts on this XRAYS article by taking our brief survey.

Posted 9/13/17

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