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Study: Is breast cancer risk increased in women who test negative for the BRCA mutation in their family?

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Contents

At a glance In-depth
Findings     Limitations               
Questions for your doctor Resources


STUDY AT A GLANCE

This study is about:

Whether women from mutation-positive families who test negative for their familial BRCA mutation are at higher risk of breast cancer than women in the general population.

Why is this study important?

If women who test negative for the BRCA mutation in their families are at higher risk than women in the general population, they may require different screening or prevention.  

Study findings: 

  1. Women who tested negative for their familial mutation were almost 5 times more likely to develop breast cancer than expected for an average-risk woman of the same age.

Limitations:

Women in this study who tested negative for BRCA may have been screened much more than women in the general population. Increased or could have resulted in more cancers being caught. Additionally, we have not identified and cannot always test for every gene that can affect cancer risk within families—abnormalities in other genes may influence risk in families with BRCA mutations. This study only looked at whether the women carried BRCA mutations; it did not consider whether they might have carried other genetic mutations that raise cancer risk. This is important, because if the BRCA-negative women who developed breast cancer carried mutations in other genes, their cancers could be attributed to those other mutations. Finally, this study was conducted through a cancer genetics clinic, a type of clinic that often sees families with very high cancer rates, which may have biased the results

What does this mean for me?

More research needs to be done to understand if women who do not carry the BRCA mutation found in their family are still at higher risk of breast cancer than women in the general population. Even if you don’t test positive for your family’s mutation, having a who has had breast cancer raises your risk for developing the disease compared to women in the general population. Patients from high-risk families should speak with a genetics expert before and after genetic testing to understand their risk for cancer and determine a screening program that is appropriate for them.

Posted 4/19/16

References

Evans GR, Ingham SL, Buchan I, et al. “Increased Rate of Phenocopies in All Age Groups in BRCA1/BRCA2 Mutation Kindred, but Increased Breast Cancer Risk Is Confined to BRCA2 Mutation Carriers.” Cancer Epidemiology, Biomarkers & Prevention. 2013 December; 22(12): 2269-2276.

Kurian AW, Gong GD, John EM, et al. “Breast cancer risk for noncarriers of family-specific and BRCA2 mutations: findings from the Breast Cancer Family Registry.” Journal of Clinical Oncology. 2011; 29:4505-4509.

This article is relevant for:

Women from a family with a known BRCA mutation who tested negative for the mutation in the family

Be part of XRAY:

Expert Guidelines
Expert Guidelines

NCCN guidelines recommend genetic counseling and testing for people without cancer who have the following family history:

  • A relative who has tested positive for an in a gene that increases cancer risk.
  • One or more first- or second-degree relatives with breast cancer and any of the following:
    • diagnosed at age 45 or younger
    • two separate breast cancers, with the first diagnosis at age 50 or younger
    • male breast cancer
  • One or more first- or second-degree relatives with:
    • colorectal cancer before age 50
    • endometrial cancer before age 50
    • ovarian, or primary peritoneal cancer
    • rare or childhood cancers
  • One or more first-degree relatives with:
    • or high-grade cancer
    • pancreatic cancer
  • Two or more relatives on the same side of the family diagnosed with any combination of the following at any age:
    • breast cancer
    • pancreatic cancer
    • prostate cancer
    • melanoma
    • sarcoma
    • adrenal cancer
    • brain tumors
    • leukemia
    • endometrial cancer
    • thyroid cancer
    • kidney cancer
    • diffuse gastric cancer
    • colon cancer

Updated: 12/04/2021

Questions To Ask Your Doctor
Questions To Ask Your Doctor

  • I do not carry my family’s BRCA mutation. What type of cancer screening should I have?
  • I developed breast cancer even though I do not carry my family’s BRCA mutation. What is my daughter’s risk?
  • Should I have additional genetic testing? 
  • Can you refer me to a genetic counselor?
  • What are risk factors for breast cancer?
  • How can I reduce my breast cancer risk?

Open Clinical Trials
Open Clinical Trials

The following clinical trials include genetic counseling and testing. 

Other genetic counseling or testing studies may be found here.

 

Updated: 02/29/2024

Peer Support
Peer Support

FORCE offers many peer support programs for people with inherited mutations. 

Updated: 08/06/2022

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 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

Other ways to find experts

Updated: 07/21/2023

Who covered this study?

Medical News Today

BRCA-negative results may not reduce cancer risk This article rates 3.5 out of 5 stars

Fox News

Negative BRCA gene test doesn’t always mean lower breast cancer risk This article rates 3.5 out of 5 stars

How we rated the media

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