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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)

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

Relevance

This article is most relevant for Young black women who have been diagnosed with breast cancer

Relevance Rating Details

Relevance: High

Strength of Science: High

Research Timeline: Post Approval

Media Ratings

Did you see the media coverage of this article?

See all media ratings.

How we rated the media

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

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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):  ­­

  1. Twelve percent of Black women diagnosed at age 50 or younger with invasive breast cancer had a mutation.
  2. Of the Black women who tested positive for a mutation, 40% did not have a family history of breast or ovarian cancer.
  3. mutations were found in 30% of the Black women diagnosed at age 50 or younger with triple negative breast cancer.
  4. 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 relevant for:

Young black women who have been diagnosed with breast cancer

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

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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
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

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 
    • 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

  • 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
Open Clinical Trials

Below are clinical trials that include genetic counseling and testing.

Other genetic counseling or testing studies may be found here.

 

Updated: 05/28/2023

Peer Support
Peer Support

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

Updated: 11/29/2022

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 Counselor 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 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. 

Related experts

Genetics clinics

Other ways to find experts

Updated: 07/21/2023

Related Resources
Related Resources

The following organizations have resources related to genetic counseling and testing. 

Updated: 12/05/2021

Related Resources
Related Resources

The following organizations have resources related to breast cancer. 

Updated: 06/28/2023

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

How we rated the media

Back to XRAY Home

Article Rating Details

Philly.com: Genetics may fuel aggressive breast cancer in black women
Rating: 5 Stars

  • This was a well-done media article.

Oncology Nursing News: BRCA mutations in young black women higher than expected
Rating: 4.5 Stars

  • This was a well-written article.
  • It would have been stronger with outside sources.
  • They did not mention limitations of the study.

Benchmark Reporter: Black women twice as likely to suffer from breast and ovarian cancer
Rating: 2.5 Stars

  • The headline is inaccurate. The purpose of the study was to look at BRCA mutations in the African American population. And the research did not find that African American women are twice as likely to suffer from breast and ovarian cancer, which is what the headline says.
  • There were no sources interviewed.
  • The writing is confusing—it is not clear about what the study found and what was studied in previous research.
  • They did not talk about the limitations of the research study.

Study Rating Details

Relevance: High

  • This study is very relevant to young African American women diagnosed with breast cancer. 
  • All young women diagnosed with breast cancer before age 50 meet national guidelines for genetic counseling and testing. This includes women of any race and ethnicity. 

Strength of Science: High

  • This was a well-done study.
  • It had the appropriate research design components and study analysis.
  • The study population only included women from Florida. While it is likely the results can be applied to women throughout the United States, the researchers would need to look at a population across the country to demonstrate this.

Research Timeline: Post-Approval

  • A large body of research has proven the benefit of genetic counseling and testing for young women with breast cancer. 
  • Genetic testing is widely available for most young women with breast cancer.