Study: Yearly breast MRI screening improves outcomes for women with inherited BRCA mutations
Summary
An international research study of yearly breast MRI screening among women with BRCA1 and BRCA2 gene mutations found that BRCA1 carriers who had MRI screenings were less likely to die of breast cancer than those who did not. Additional studies with more BRCA2 mutation carriers are needed to determine if yearly breast MRIs reduce deaths from breast cancer in this group. (Posted 6/24/24)
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RELEVANCE
Most relevant for: People with a BRCA1 or BRCA2 mutation who are considering breast MRI screening.
It may also be relevant for:
- people with breast cancer
- previvors
- people with a genetic mutation linked to cancer risk
Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Human Research
What is this study about?
This international study looked at whether yearly breast screening reduces the risk of death from breast cancer among women with a or mutation. Researchers compared the number of deaths due to breast cancer among mutation carriers who had regular breast screenings to those who did not.
Women with a or mutation have a very high risk for breast cancer. Expert guidelines outline three main options for managing this risk:
- risk-reducing mastectomy
- medication to lower risk (e.g., tamoxifen)
- increased surveillance using a combination of and MRIs
These guidelines vary by country. In the United States, the National Comprehensive Cancer Network (NCCN) creates guidelines for cancer screening, prevention and treatment. The NCCN recommends yearly breast screening beginning at age 25 for people with a or mutation. Therefore, it is important to know if breast MRIs reduce the risk of death from breast cancer among mutation carriers.
Most study participants received increased screening by adding a yearly breast to their other screenings to detect cancer early.
Study findings
The study involved 2,488 women (people assigned female at birth) from 59 centers in 11 countries. Among these women, 2,004 had a mutation, while 484 had a mutation. Most participants (1,756: 1,442 and 314 mutation carriers) had at least one screening . The remaining 732 women (562 and 170 mutation carriers) did not have breast MRIs.
Follow-up began when participants entered the study (at age 30 or older). The average follow-up time was just over nine years.
Throughout the study:
- 344 women developed breast cancer. Of these:
- 241 had breast MRIs.
- 103 did not have breast MRIs.
- 35 died from their disease.
Among the women who died of breast cancer:
- 21 did not have breast MRIs.
- 18 had a mutation.
- 3 had a mutation.
- 14 had breast MRIs.
- 12 had a mutation.
- 2 had a mutation.
Breast significantly reduced deaths from breast cancer in mutation carriers. Unfortunately, due to study limitations, including a small sample size, more research of women with mutations is needed to better understand how breast screening impacts death from breast cancer.
Overall, this study showed that the risk of death by age 75 due to breast cancer was 20.5 percent for those who did not undergo surveillance, compared to 5.5 percent for those who did.
What does this mean for me?
If you or someone you know has a or mutation and has not undergone risk-reducing breast surgery, guidelines recommend annual breast MRIs beginning at age 25. This study showed that breast MRIs reduced deaths due to breast cancer in women with a or mutation, compared to those who do not have regular breast MRIs. An earlier study referenced in this research had similar findings.
Most participants in this study were white; the study lacked enough women from other racial or ethnic groups to compare the effectiveness of breast MRIs on their mortality. screenings occurred from 1997 to 2018, which may not reflect current screening protocols and emerging technology.
Men (assigned male at birth) are as likely as women to have a or mutation. Men carrying a or mutation are at increased risk for several cancers, including breast cancer, but their risk is much lower than the risk of women, and breast cancer screening guidelines for men with a or mutation are much different than guidelines for women. For this reason, men were not included in this study.
Of note, this study only looked at the impact of breast MRIs on the risk of death due to breast cancer in women with a or mutation. The researchers did not look at other screening methods, preventive therapies or other breast cancer genes such as , and others.
Lubinski J, Kotsopoulos J, Moller P, et al. Surveillance and Breast Cancer Mortality in Women With
. Risk Management Strategies. Bring Your Brave: Risk Assessment & Management Strategies. Accessed April 17, 2024.
National Cancer Institute. Study: Fewer Deaths Among Women with Mutations Who Underwent Breast Cancer Screening. Cancer Currents Blog. Published April 15, 2024.
National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology. (NCCN Guidelines): Breast Cancer Screening and Diagnosis. Version 2.2024. Published April 9, 2024.
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.
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posted 6.24.24
Guidelines
The National Comprehensive Cancer Network (NCCN) provides breast cancer risk-management guidelines for people with and mutations. We recommend that you speak with a genetics expert who can review your personal and family history of cancer and help you to determine the best risk management plan. Note that our use of "men" and "women" refers to the sex you were assigned at birth.
Recommended screening for women with mutations:
- Beginning at age 18, be aware of how your breasts normally look and feel. Tell your doctor about any breast changes.
- Beginning at age 25, have a doctor examine your breasts every 6-12 months.
- Beginning at age 25, have an annual breast with contrast (or if is unavailable).
- Beginning at age 30 and continuing until age 75, have an annual and an annual breast with contrast.
- After age 75, speak with your doctor about the benefits and risks of screening.
Risk reduction for women:
- Speak with your doctor about the advantages and disadvantages of risk-reducing mastectomy.
- Research shows that risk-reducing mastectomy can lower the chance of developing breast cancer in high-risk women by about 90 percent. Mastectomy has not been shown to help high-risk women live longer.
- Because some breast tissue remains after mastectomy, some breast cancer risk also remains.
- Speak with your doctor about the benefits and risks of tamoxifen or other estrogen-blocking drugs to reduce your breast cancer risk. The benefits and risks may be different for women with or mutations. Research on the benefit of these drugs to reduce breast cancer risk in women with mutations has been mixed.
Risk management for men:
- Beginning at age 35, learn how to do breast self-exams to check for breast changes.
- Beginning at age 35, have a doctor examine your chest every 12 months.
- Beginning at age 50, consider an annual (especially for men with mutations).
Updated: 06/21/2024
Open clinical trials
The following are breast cancer screening or prevention studies enrolling people at high risk for breast cancer.
- NCT04711109: Denosumab for Preventing Breast Cancer in Women with a Inherited Mutation (BRCA-P). This study will test the effectiveness of a drug (denosumab) in preventing the development of breast cancer in women with an inherited mutation.
- NCT04067726: Denosumab and Mammographic Density in Premenopausal Women With Dense Breasts (TRIDENT). This study is looking at the drug denosumab to learn if it can reduce breast density in high-risk premenopausal women who have dense breasts.
- The Risk Factor Analysis of Hereditary Breast and Ovarian Cancer In Women with , or Mutations. This study seeks to improve researchers’ understanding of how hormonal, reproductive and lifestyle factors may be associated with cancer in high-risk people.
- NCT02620852: Women Informed to Screen Depending on Measures of Risk (WISDOM) study. The goal of this study is to determine if breast cancer screening can be improved by personalizing each woman’s schedule, compared to the current one-size-fits-all annual approach.
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NCT04674306: Therapy With an Alpha-lactalbumin Vaccine in . This study is testing a new vaccine to lower the risk of breast cancer in high-risk women with an in , or .
Additional risk-management clinical trials for people at high risk for breast cancer may be found here.
Updated: 01/24/2024
Related resources
The following organizations have resources related to breast cancer.
- FORCE related resources:
- Information: Breast cancer screening and prevention
- Information: Breast cancer treatment
- Personalized portal: Breast cancer
- XRAY category: Breast cancer
- XRAY category: breast cancer
- Video playlist: Breast cancer
- Blogs: Breast cancer
- General breast cancer resources:
- breast cancer resources:
- Male breast cancer resources:
- Resources for Black, Indigenous and People of Color:
Updated: 05/22/2024
Peer Support
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once registered, 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.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meetings.
Updated: 08/06/2022