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Study: Study identifies genes associated with risk of triple-negative breast cancer

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Contents

At a glance In-depth
Findings     Limitations      
Questions for your doctor  Resources


STUDY AT A GLANCE

This study is about:

The identification of genes that increase risk of .

Why is this study important?

National guidelines currently recommend and testing for women diagnosed with triple-negative breast cancer () at age 60 or younger or those who meet criteria based on a personal or family history of cancer. However, there are no guidelines for  genetic testing for other genes in TNBC patients. This study suggests that other non-BRCA genes also contribute to risk of TNBC.

Study findings: 

Panel testing in 10,901 triple-negative breast cancer patients revealed:

  • Inherited mutations were detected in approximately 14.5% of all participants.
    • Of these, approximately 9% of participants had mutations that were not in BRCA1 or BRCA2.
  • Inherited mutations in the , BRCA1, BRCA2, , and genes were associated with a high risk of TNBC.
  • Inherited mutations in , , and were associated with moderate risk of TNBC.

What does this mean for me?

Genetic testing can help people with breast cancer learn if their cancer was caused by an . Panel testing, which tests for inherited mutations in many genes versus gene by gene testing, can identify those at increased risk for TNBC. Knowing that you are at increased risk for TNBC may impact your risk management strategies. Panel testing can also identify those TNBC patients who would benefit from targeted treatments such as patients with .

It is important to remember that this study only applied to TNBC risk and that some of the genes studied here could be associated with greater or different overall breast cancer risk or risk of other cancers such as ovarian or pancreatic cancer.

Results of this study suggest that all individuals with TNBC should undergo panel testing. If you have been diagnosed with TNBC, ask your health care providers if panel testing is right for you.

Posted 8/23/18

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References

Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ.. "Triple-Negative Breast Cancer Risk Genes Identified by Multigene Panel Testing." J Natl Cancer Inst. 2018. 110: 855–862.
 

Disclosure

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:

People diagnosed with triple-negative breast cancer

This article is also relevant for:

people with breast cancer

people with metastatic or advanced cancer

people with a genetic mutation linked to cancer risk

previvors

people with triple negative breast cancer

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Expert Guidelines
Expert Guidelines

National Comprehensive Cancer Network guidelines regarding who should undergo genetic counseling and testing recommend speaking with a genetics expert about genetic testing if you have been diagnosed with breast cancer and 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.
    • Lobular breast cancer and a family history of diffuse gastric cancer.
    • breast cancer and are at high-risk for recurrence.
    • Tumor testing shows a mutation in a gene that is associated with hereditary cancer.

OR 

  • 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   cancer at any age.
    • Two separate cancer diagnoses.
    • Metastatic prostate cancer or prostate cancer that is high-risk or very-high-risk. 

The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 recommending that 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

  • Should I consider genetic testing?
  • Can you refer me to a genetics expert?
  • I had BRCA testing which was negative. Should I consider panel testing?
  • Are there different risk management strategies that would benefit me?
  • Are there targeted treatments that are appropriate for me?

Open Clinical Trials
Open Clinical Trials

The following studies are enrolling people with TNBC.  

Several other clinical trials for patients with early-stage TNBC can be found here.

Updated: 02/22/2024

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

Who covered this study?

Science Daily

Triple-negative: Genes associated with risk for aggressive breast cancer This article rates 4.5 out of 5 stars

USA Today

Researchers identify genes linked to aggressive breast cancer This article rates 1.0 out of 5 stars

How we rated the media

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