Study: Study identifies genes associated with risk of triple-negative breast cancer
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
Be part of XRAY:
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
- 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?
The following studies are enrolling people with TNBC.
- NCT05629585: A Study of Dato-DXd With or Without Durvalumab Versus Investigator's Choice of Therapy in Patients With I-III Triple-negative Breast Cancer Without Pathological Complete Response Following Therapy (TROPION-Breast03). This study evaluates the safety and effectiveness of the investigational drug Dato-DXd given with or without durvalumab when compared with the combination capecitabine and/or pembrolizumab in people with stage 1-3 TNBC who have residual invasive disease in the breast and/or axillary at surgical resection following neoadjuvant systemic therapy.
- NCT04584255: Treating Early-Stage BRCA, or PALB2-Associated Breast Cancer with a () and (Dostarlimab). This research study involves pre-operative therapy that is specifically targeted for breast cancer in individuals with BRCA mutations.
- NCT04674306: Therapy With an Alpha-lactalbumin Vaccine in Triple-Negative Breast Cancer. This study determines the safety as well as the most effective dose of the alpha-lactalbumin vaccine (aLA breast cancer vaccine) to treat patients with non-metastatic triple-negative breast cancer.
- NCT03562637: Study of Adagloxad Simolenin (OBI-822)/OBI-821 in the Adjuvant Treatment of Patients With Globo H Positive TNBC. The GLORIA study is a Phase III, trial investigating the use of the drug adagloxad simolenin (OBI-822) in combination with the drug OBI-821 for adjuvant treatment of patients with high-risk, early-stage TNBC.
- NCT05455658: STEMVAC in Patients With Early Stage Triple Negative Breast Cancer. This trial studies the effect of the STEMVAC vaccine to treat patients with patients with stage 2B-3 triple-negative breast cancer.
- NCT05929768: Shorter Chemo-Immunotherapy Without Anthracycline Drugs for Early-Stage Triple Negative Breast Cancer. This study compares the effects of shorter chemotherapy (chemo)-immunotherapy without anthracyclines to the standard chemo-immunotherapy for the treatment of early-stage triple-negative breast cancer.
Several other clinical trials for patients with early-stage TNBC can be found here.
Updated: 02/22/2024
The following clinical trials include genetic counseling and testing.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women ages 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- NCT05562778: Chatbot to maximize hereditary cancer genetic risk assessment. Researchers are testing whether a mobile health platform, known as a "chatbot" can improve rates of genetic testing among Medicaid patients with an elevated risk having an inherited mutation.
- NCT05427240: eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eReach2). This study will look at the effectiveness of offering web-based options for pre/post-test genetic counseling to provide equal or improved timely uptake of genetic services and testing.
- NCT05694559: Connecting Black Families in Houston, Texas to Hereditary Cancer Genetic Counseling, Genetic Testing, and Cascade Testing by Using a Simple Genetic Risk Screening Tool and Telegenetics. This study will provide genetic testing to 150 Black individuals and families and provide genetic counseling and risk reduction resources to individuals with a mutation linked to increased cancer risk.
Other genetic counseling or testing studies may be found here.
Updated: 02/29/2024
The following organizations offer peer support services for people with or at high risk for breast cancer:
- FORCE peer support:
- Our Message Boards allow people to connect with others who share their situation. Once you register, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Connect online with our Private Facebook Group.
- Join our virtual and in-person support meetings.
- Other organizations that offer breast cancer support:
Updated: 05/07/2024
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
- The American College of Medical Genetics website has a tool to find genetics clinics by location and specialty.
Other ways to find experts
- Register for the FORCE Message Boards and post on the Find a Specialist board to connect with other people who share your situation.
- The National Cancer Institute (NCI)-designated comprehensive cancer centers have genetic counselors who specialize in cancer.
- FORCE's toll-free helpline (866-288-RISK, ext. 704) will connect you with a volunteer board-certified genetic counselor who can help you find a genetics expert near you.
Updated: 07/21/2023
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