Study: BRCA mutations more common than expected in young black women with breast cancer
Summary
Most estimates of the percentage of breast cancer patients with mutations in BRCA are based on studies in White women. These researchers found that Black women diagnosed at a young age with breast cancer were twice as likely to have a BRCA mutation than previously reported based on studies in White women with breast cancer diagnosed in the same age categories. This study shows how important it is for all Black women diagnosed with breast cancer before age 50 to speak with their doctor about genetic counseling and testing. (9/29/15)
Relevance
This article is most relevant for Young black women who have been diagnosed with breast cancer
Relevance: High
Strength of Science: High
Research Timeline: Post Approval
Media Ratings
Who covered this study?
Philly.com
Genetics may fuel aggressive breast cancer in black women
This article rates 5.0 out of 5 stars
Oncology Nursing News
BRCA mutations in young black women higher than expected
This article rates 4.5 out of 5 stars
Read the article that we reviewed
Contents
| At a glance | Questions for your doctor |
| Findings | In-depth |
| What does this mean for me? | Limitations |
| Guidelines | Resources |
AT A GLANCE
This study is about:
Estimating the number of Black women diagnosed with invasive breast cancer before age 50 who carry a mutation.
Why is this study important?
Genetic testing can provide women with breast cancer with important information that may affect their medical decisions. Genetic testing can also provide clues about the risk for cancer in relatives. This study is the largest in the United States to look at how common mutations are in Black women diagnosed with breast cancer at the age of 50 or younger, regardless of family history of breast and/or ovarian cancer.
Study finding(s):
- Twelve percent of Black women diagnosed at age 50 or younger with invasive breast cancer had a mutation.
- Of the Black women who tested positive for a mutation, 40% did not have a family history of breast or ovarian cancer.
- mutations were found in 30% of the Black women diagnosed at age 50 or younger with triple negative breast cancer.
- mutations were found in 22% of Black women diagnosed with breast cancer at 35 years of age or younger. Women with mutations were often diagnosed at a younger age than other women in the study; this trend was not found for women with mutations.
Limitations
Because the study was conducted with only young Black women in Florida and race was self-reported, this study may not be able to be generalized to young Black women in other states. Because family history is not collected by the Florida cancer registry, we have no way to know if family history influenced participation.
National Guidelines
National guidelines recommend that any woman diagnosed with breast cancer before age 50 be referred for genetic counseling and testing.
What do these findings mean for me?
If you are a Black women diagnosed at 50 years of age or younger with invasive breast cancer, you should ask your doctor about referral for genetic counseling and testing for an inherited mutation. Genetic counseling and testing is recommended even for women with no family history of cancer.
posted 9/29/15
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References:
Pal T, Bonner BS, Cragun D, et al. “A High Frequency of Mutations in Young Black Women With Breast Cancer Residing in Florida.” Cancer, initially published online August 19, 2015.
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:
Young black women who have been diagnosed with breast cancer
This article is also relevant for:
Triple negative breast cancer
ER/PR +
Her2+ breast cancer
Breast cancer survivors
Women under 45
Women over 45
Metastatic cancer
Be part of XRAY:
IN DEPTH
Study background:
There has been very little research in the past that examined how many Black women with breast cancer have mutations. Most previous studies have focused on testing in non-Hispanic White women. These studies estimated that about 5% of all breast cancer patients have a mutation. Only three prior studies have looked at population-based testing in Black women in the United States, and those studies did not look for all known mutations in and . This population-based study included Black women diagnosed with breast cancer at 50 years of age and under, regardless of their family history of cancer. All women were recruited to the study through the Florida Cancer Registry. All women who consented to the study received full gene sequencing and comprehensive rearrangement testing of the genes at no cost.
Researchers of this study wanted to know:
What the prevalence of mutations was in Black women diagnosed with invasive breast cancer at a younger age.
Population(s) looked at in the study:
396 Black women who were diagnosed with invasive breast cancer at 50 years or younger and completed testing following study consent.
Study results:
- About 12% of Black women diagnosed at age 50 or younger with invasive breast cancer (49/396) had a mutation.
- A mutation was present in 30% of the Black women diagnosed with at age 50 or younger.
- About 50% of mutation carriers had compared to about 20% of non-BRCA mutation carriers.
- About 40% of Black women diagnosed at a young age with invasive breast cancer and found to have a mutation (20/49) had no first degree relative (parent, sibling, child) and/or second degree relative (grandparent, grandchild, aunt/uncle, niece/nephew) with breast and/or ovarian cancer.
- The mutation prevalence for Black women diagnosed with invasive breast cancer at 35 years old or younger was 22%.
- Seven percent of Black women between the ages of 46 and 50 who were diagnosed with invasive breast cancer that was not triple-negative had a mutation.
Limitations
Because the study was conducted with only young Black women in Florida and race was self-reported, this study may not be able to be generalized to young Black women in other states. Because family history is not collected by the Florida cancer registry, we have no way to know if family history influenced participation.
Conclusion:
Because of the higher frequency of mutations reported in this and other studies, testing for young Black women diagnosed at a young age with invasive breast cancer is appropriate. As this study found that about 40% of women with a known mutation did not have a close family history of breast and/or ovarian cancer, a personal history of breast cancer diagnosed at a young age regardless of family history is an indicator for testing in young Black women.
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
- at any age
- Two separate breast cancer diagnoses
- Eastern European Jewish ancestry and breast cancer at any age
- breast cancer
- Testing of your tumor shows a mutation in a gene that is associated with
- breast cancer and high risk for recurrence
- Lobular breast cancer and a family history of diffuse gastric 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
- Male breast cancer, ovarian cancer, pancreatic cancer, or cancer at any age
- Two separate cancer diagnoses
- cancer at age 55 or younger or 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
- Will my insurance pay for genetic counseling and testing?
- Can you give me a referral to a genetics expert?
- I was diagnosed with breast cancer at a young age, but I don’t have a family history of breast cancer. Should I still get testing?
- Will testing change my medical options?
- If I test positive, are there additional steps I can take to lower my risk for a new cancer diagnosis?
- What will testing mean for my family?
Open Clinical Trials
Below are clinical trials that include genetic counseling and testing.
- NCT02665195: Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes.
- NCT04245176: Genetic Testing for All Breast Cancer Patients (GET FACTS). This study looks at the impact of a novel genetic counseling method on surgical decisions in people with newly diagnosed breast cancer. This study involves genetic counseling about risk.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women age 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- Enhancing Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer. This study will test how well educational materials increase the use of knowledge about risk.
- NCT04476654: Improving Uptake of Genetic Cancer Risk Assessment in African American Women-Video. This study looks at the usefulness of intervention with a culturally-tailored video to improve uptake of genetic counseling in Black women who are at increased risk of .
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:
- 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: 11/29/2022
Find Experts
Health care providers who are specially trained in genetics can help you more clearly understand your risk for . 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 national program based out of 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.
- 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: 03/16/2022
Related Resources
The following organizations have resources related to genetic counseling and testing.
- FORCE related resources:
- Information: What is genetic testing?
- Information: How to get genetic testing
- Information: , genes and risk
- Personalized portal: Genetic testing
- XRAY category: Genetic testing
- Video: ABC of Cancer Genetics
- Video playlist: Genetic testing
- Blogs: Genetic testing
- National Society of Genetic Counseling
- JScreen
Updated: 12/05/2021
Related Resources
The following organizations have resources related to breast cancer.
- FORCE related resources:
- Information: Breast cancer screening and prevention
- Information: Breast cancer treatment
- Personalized portal: Breast cancer
- XRAY category: Breast cancer
- XRAY category: breast cancer
- Video playlist: Breast cancer
- Blogs: Breast cancer
- General breast cancer resources:
- breast cancer resources:
- Male breast cancer resources:
- Resources for Black, Indigenous and People of Color:
Updated: 03/16/2022
Who covered this study?
Philly.com
Genetics may fuel aggressive breast cancer in black women
This article rates 5.0 out of 5 stars
Oncology Nursing News
BRCA mutations in young black women higher than expected
This article rates 4.5 out of 5 stars
Benchmark Reporter
Black women twice as likely to suffer from breast and ovarian cancer 
This article rates 2.5 out of 5 stars