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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 mutations. Researchers wanted to examine if additional genetic testing would find other inherited mutations within , , or in other genes that also increase risk of breast cancer. 

Why is this study important?

A is a mutation that is common in people who come from a distinct population. In the population, three founder mutations, two in and one in have been identified. 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 . Having this information can help guide women in their breast cancer treatment choices. But what about women diagnosed with breast cancer who test negative for the founder mutations?  What is the chance they may have inherited a unique 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 women with breast cancer for mutations in 23 different breast cancer genes.
    • 903 of these women did not carry any of the three founder mutations. 
      • 7 women (0.8%) carried a unique mutation in or .
      • 31 women (3.4%) carried a harmful mutation in another breast cancer gene.

What does this mean for me?

  • If you are an 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 or other which can cause breast cancer.
    • If you had genetic testing only for the three 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 descent, you may benefit from genetic counseling and testing. Although 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:

people with breast cancer


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Study background:

Both men and women who carry a mutation have a significantly increased lifetime risk of several types of cancer. People of any race or ethnicity can test positive for a or mutation.  Between 1 in 400 and 1 in 800 people in the general U.S. population has an inherited mutation. That number increases to about 1 in 40 among people of Eastern European Jewish descent. However, many 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 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 and , in addition to targeted testing for the Jewish founder mutations.

Researchers of this study wanted to know:

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

Population(s) looked at in the study:

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

Study findings:

Of the 1,007 patients in the study:

  • 104 women (10.3%) had a or 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 .
  • 903 (90%) had none of the three Jewish founder mutations in or .
    • 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 founder mutation
    • 7 (5%) had a non-founder mutation
    • 31 (22%) had a mutation in another gene
      • 29 of these mutations were in the gene
        • Of the 29 mutations, 24 were a known founder mutation, c.1283C>T. The other five mutations are common in people of European descent.
      • 1 mutation each was found in and
    • Approximately half of women with an in a breast cancer gene had no family history of breast or ovarian cancer.


  • This study looked only at women with invasive breast cancer. Women who were not , 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 , 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 women who have been diagnosed with breast cancer and have tested negative for the three founder mutations should talk to their health care provider to see if they should consider genetic testing for other mutations in , 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

Expert Guidelines
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  
  • You have any of the following:  
    • Breast cancer at age 50 or younger  
    • Male breast cancer at any age
    • Ovarian cancer at any age  
    • at any age 
    • Two separate breast cancer diagnoses
    • Eastern European Jewish ancestry and breast cancer at any age 
    • Lobular breast cancer and a family history of diffuse gastric cancer
    • For treatment decisions for people with breast cancer or people with early , breast cancer who are at high-risk for recurrence 
    • Testing of your tumor shows a mutation in a gene that is associated with


  • You have one or more close family members who have had:  
    • Young-onset or rare cancers 
    • Breast cancer at age 50 or younger
    • Male breast cancer, ovarian cancer, pancreatic cancer, or   cancer at any age
    • Two separate cancer diagnoses 
    • prostate cancer or  cancer that is high-risk or very-high-risk group. 

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: 07/28/2023

Questions To Ask Your Doctor
Questions To Ask Your Doctor

  • I previously tested negative for the founder mutations. Should I be tested for other 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
Open Clinical Trials

The following clinical trials include genetic counseling and testing. 

Other genetic counseling or testing studies may be found here.


Updated: 02/29/2024

Peer Support
Peer Support

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

Updated: 05/07/2024

Find Experts
Find Experts

The following resources can help you locate a genetics expert near you or via telehealth.

Finding genetics experts

  • The National Society of Genetic Counselors website has a search tool for finding a genetic counselor by specialty and location or via telehealth. 
  • 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. 
  • Gene-Screen is a third-party genetic counseling group that can help educate, support and order testing for patients and their families. 
  • JScreen is a national program from Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
  • 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. 

Related experts

Genetics clinics

Other ways to find experts

Updated: 07/21/2023

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