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


This research is relevant for:

Checked Breast cancer survivors

Checked Women under 45

Checked Women over 45

Unhecked Men with breast cancer

Checked Metastatic breast cancer

Checked Triple negative breast cancer

Unhecked Previvors

Checked BRCA mutation carriers

Checked ER/PR +

Unhecked Her2+ breast cancer

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 of non-Hispanic white women. Researchers have found that the prevalence of BRCA mutations in black women diagnosed at a young age with breast cancer is approximately double that of previously reported estimates in non-Hispanic white women with breast cancer diagnosed in similar age categories. This study underscores the need for health care providers to refer for genetic counseling and testing all black women diagnosed with invasive breast cancer at or before age 50.


STUDY AT A GLANCE

This study is about:

Estimating the percentage of black women who carry a BRCA mutation and are diagnosed with invasive breast cancer before age 50.

Why is this study important?

Breast cancer survival rates differ between non-Hispanic white women and black women. Black women are almost twice as likely to die of breast cancer by age 50 compared to white women.  This disparity may be due in part to the stage of cancer at diagnosis and the higher rates of triple negative breast cancer in black women. 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.

Key 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. 

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, it is appropriate to consider BRCA testing, even in the absence of a family history of breast or ovarian cancer.

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? 

RESEARCH SUMMARY

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

This study had 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. 

National guidelines recommend that any woman diagnosed with breast cancer before age 50 be referred for genetic counseling. However, guidelines for genetic testing are different, and include women diagnosed with breast cancer at or below age 45, and any woman diagnosed with triple-negative breast cancer at or below age 60. This gap in the guidelines means that women between the ages of 46 and 50 who are diagnosed with breast cancer that is not triple-negative do not qualify for genetic testing based on their personal breast cancer history alone. Because BRCA mutations were identified in more than 7% of this group (black women between 46 and 50 diagnosed with breast cancer that was not triple-negative), the study authors suggest that their research findings make it reasonable to consider testing this group of black women based solely on their personal cancer history.

References:

Pal T, Bonner BS, Cragun D, et al. “A High Frequency of BRCA Mutations in Young Black Women With Breast Cancer Residing in Florida.” Cancer, initially published online August 19, 2015.  

posted 9/29/15

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