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Study: BRCA mutations more common than expected in young black women with breast cancer

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)

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Most relevant for: Young black women who have been diagnosed with breast cancer.

It may also be relevant for:

people with triple negative breast cancer
people with ER/PR + cancer
people with Her2-positive cancer
people with breast cancer
people with metastatic or advanced cancer

Relevance: High

Strength of Science: High

Research Timeline: Post Approval

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Genetics may fuel aggressive breast cancer in black women
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BRCA mutations in young black women higher than expected
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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 . 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 also relevant for:

people with triple negative breast cancer
people with ER/PR + cancer
people with Her2-positive cancer
people with breast cancer
people with metastatic or advanced cancer

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

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

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
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.
- breast cancer and are at high-risk for recurrence.
- Tumor testing 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.

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

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

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 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 .
NCT05427240: eHealth Delivery Alternative for Cancer Genetic Testing for (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 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

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: 05/07/2024

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

The American College of Medical Genetics website has a tool to find genetics clinics by location and specialty.