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


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Young black women who have been diagnosed with breast cancer

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Checked Women over 45

Checked Special populations: African American women


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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 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 invasive breast cancer at or before age 50 to be referred for genetic counseling and testing. (9/29/15)

Contents

At a glance                  Questions for your doctor
Findings               In-depth                
What does this mean for me? Limitations                               
Guidelines Resources and references


AT A GLANCE

This study is about:

Estimating the number of black women diagnosed with invasive breast cancer before age 50 who carry a BRCA 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 BRCA 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 BRCA mutation.
  2. Of the black women who tested positive for a BRCA mutation, 40% did not have a family history of breast or ovarian cancer.
  3. BRCA mutations were found in 30% of the black women diagnosed at age 50 or younger with triple negative breast cancer.
  4. BRCA mutations were found in 22% of black women diagnosed with breast cancer at 35 years of age or younger. Women with BRCA1 mutations were often diagnosed at a younger age than other women in the study; this trend was not found for women with BRCA2 mutations. 

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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Expert Guidelines

The National Comprehensive Cancer Network (NCCN) is a panel of cancer and genetics experts that publishes guidelines for genetic testing for inherited mutations that increase cancer risk. Any person diagnosed with any of the following cancers meets NCCN Guidelines for genetic counseling and testing regardless of their ethnicity:

  • Ovarian, fallopian tube or primary peritoneal cancer diagnosed at any age or stage. 
  • Pancreatic cancer diagnosed at any age or stage. 
  • Metastatic prostate cancer.
  • Breast cancer diagnosed at, or younger than age 50.
  • Triple-negative breast cancer diagnosed at, or younger than age 60. 
  • Male breast cancer.
  • More than one breast cancer diagnosis in the same person.
  • Breast cancer at any age and a family history of breast, ovarian, pancreatic or high-grade prostate cancer. 
  • Uterine or colorectal cancer diagnosed at age 50 or younger. 

Additional criteria for genetic counseling and testing may apply. Visit the National Society of Genetic Counselors for more information or to consult with a genetic counselor. 

These guidelines are up-to-date as of 10/04/19

Questions To Ask Your Health Care Provider

  • 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 BRCA testing?
  • Will BRCA 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 BRCA testing mean for my family? 

IN DEPTH

Study background:

There has been very little research in the past that examined how many black women with breast cancer have BRCA mutations. Most previous studies have focused on BRCA testing in non-Hispanic white women. These studies estimated that about 5% of all breast cancer patients have a BRCA mutation. Only three prior studies have looked at population-based BRCA testing in black women in the United States, and those studies did not look for all known mutations in BRCA1 and BRCA2.  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 BRCA genes at no cost.

Researchers of this study wanted to know:

What the prevalence of BRCA 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 BRCA 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 BRCA mutation.
  • A BRCA mutation was present in 30% of the black women diagnosed with triple-negative breast cancer at age 50 or younger.
  • About 50% of BRCA mutation carriers had triple-negative breast cancer 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 BRCA 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 BRCA 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 BRCA 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 BRCA mutations reported in this and other studies, BRCA 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 BRCA 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 BRCA testing in young black women. 

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