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Study: Survival and mutation status in breast cancer patients under age 40

Studies have found conflicting rates of survival for BRCA mutation carriers who develop breast cancer, reporting better, worse and similar outcomes compared to patients with sporadic breast cancer. New results of the large Prospective Outcomes in Sporadic versus Hereditary (POSH) breast cancer study found no difference in survival rates between the two groups. The study also concluded that among young triple-negative breast cancer patients during the first 2 years after diagnosis, ~~BRCA~~ mutation carriers had an initial survival advantage compared to women without a ~~BRCA~~ mutation. (02/15/18)

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Most relevant for: Young breast cancer patients.

It may also be relevant for:

people with triple negative breast cancer
people with ER/PR + cancer
people with a genetic mutation linked to cancer risk
people with breast cancer

Relevance: Medium-High

Strength of Science: High

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Medpage Today

Young-onset breast cancer survival unaffected by BRCA status—but exception seen in triple-negative disease
This article rates 4.0 out of 5 stars

Newsweek

A gene that ‘causes cancer’ probably doesn’t increase your chances of dying from cancer
This article rates 1.0 out of 5 stars

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

STUDY AT A GLANCE

This study is about:

Whether having a mutation affects survival outcomes for breast cancer patients under age 40.

Why is this study important?

Only 5% of breast cancers occur in women under age 40, yet a significant number of deaths occur in this age group. Women diagnosed under age 40 or also more likely to test positive for a BRCA mutation compared to women who develop breast cancer later in life. Previous studies have reported conflicting outcomes regarding the survival of young breast cancer patients with a BRCA mutation compared to those who test negative for a mutation. This study is important because it shows no difference in survival between the two groups. It is also important because its scope and size underscore the accuracy of its findings.

Study findings:

POSH ( Outcomes in Sporadic versus Hereditary) breast cancer is an ongoing study in the United Kingdom. It is the largest prospective study on outcomes in young breast cancer patients with and without a BRCA mutation. Researchers evaluated the outcomes (survival) of 2,733 younger women diagnosed with breast cancer; 338 (12%) were BRCA-positive. Patients were identified within the first 12 months of diagnosis and followed-up at 6 months, 12 months, and then yearly. The study found that having a BRCA mutation did not impact young breast cancer patients’ survival, and that young BRCA-positive patients who develop had a survival advantage during the first few years after diagnosis compared to non-carriers. Lead researcher Diana M. Eccles, MD, of the University of Southampton and University Hospital Southampton NHS Foundation Trust, stated, “…our findings suggest that younger women with breast cancer who have a BRCA mutation have similar survival to women who do not carry a mutation after receiving treatment.”

What does this mean for me?

If you are a young woman with a BRCA mutation who develops breast cancer, this study confirms that your survival outcome is similar to young breast cancer patients without BRCA mutations. Interestingly, this study also showed that if you are a BRCA mutation carrier with triple-negative breast cancer, you have a survival advantage during the first 2 years after diagnosis compared to patients who are non-carriers.

Read our related Headline Hype blog on the misleading media coverage of this research.

Headline Hype BRCA and Risk of Dying from Cancer

Posted 02/15/18

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References

Copson ER, Maishman TC, Tapper WJ, et al. “BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.” Lancet Oncology. 2018 February; 19(2):169–180.

Fasching PA. “Breast cancer in young women: do or mutations matter?” Lancet Oncology. 2018 February; 19(2): 150-151.

This article is also relevant for:

people with triple negative breast cancer
people with ER/PR + cancer
people with a genetic mutation linked to cancer risk
people with breast cancer

IN-DEPTH REVIEW OF RESEARCH

Study background:

POSH (Prospective Outcomes in Sporadic versus Hereditary) breast cancer is a large, prospective study that recruited female patients in 127 hospitals in the United Kingdom from 2000 to 2008. Patients were ages 18 to 40 when first diagnosed with invasive breast cancer. Long-term follow up is ongoing.

Nearly 90% of patients received chemotherapy. Half had breast-conserving surgery and half had a mastectomy. The researchers examined detailed clinical follow-up information, including date and site of disease recurrence, at 6 months, 12 months, and then annually.

Researchers of this study wanted to know:

What was the overall survival, from initial diagnosis to death from any cause, in young, BRCA-positive women compared to young, BRCA-negative women. It also assessed distant disease-free survival or the time from initial diagnosis to first distant disease.

Population(s) looked at in the study:

Among the 2,733 patients in the POSH study:

338 (12%) carried a BRCA1 or BRCA2 mutation
558 women (20%) had triple-negative breast cancer ()
- BRCA mutations were identified in 136 (24%) of TNBC patients

Study findings:

At an average follow-up of 8.2 years, 678 (25%) of the patients had died. Among these patients, 651 (96%) of 678 deaths were due to breast cancer. Statistical analysis showed no significant difference throughout the study in overall survival (OS) among patients with BRCA-positive breast cancer compared with those with BRCA-negative disease. The 2-year OS rate was 97.0% vs 96.6%, the 5-year OS rate was 83.8% vs 85.0%, and the 10-year OS rate was 73.4% vs 70.1%, respectively.

Researchers also analyzed a specific subgroup: women with BRCA mutations who had triple-negative breast cancer. This group had an improved 2-year OS rate of 95% compared to 91% for BRCA-negative patients; however, this survival advantage was not observed at the 5-year or 10-year follow-up.

Limitations:

Since study participation was restricted to women age 40 or younger, these results may not translate to BRCA mutation carriers who are older when diagnosed. It’s also important to note that during the study recruitment period (between 2000 and 2008), BRCA testing and risk-reducing surgery were not routine for breast cancer. In addition, breast cancer treatment recommendations in the U.K. have also changed over the course of recruitment, which may have affected the survival rates. The study was conducted prior to availability of panel testing, so the number of participants with mutations outside of BRCA1 and BRCA2 is unknown.

Media Coverage

After this study was published in Lancet Oncology last month, a number of related media articles began with sensationalized headlines, including “A Gene That ‘Causes Cancer’ Probably Doesn’t Increase Your Chances of Dying from Cancer” and “The ‘Deadly Breast Cancer Gene’ Is a Myth, Lancet Study Confirms.” Understandably, these headlines created quite a social media stir. FORCE covered the uproar in two recent Headline Hype blog posts.

Conclusions:

Understanding survival outcomes in young BRCA carriers with breast cancer is important because these patients have increased risk of also developing ovarian cancer, contralateral (in the other breast) breast cancer, or a new primary cancer in the same breast. These risks determine treatment, and knowing that young BRCA1 or BRCA2 mutation carriers do not have different survival outcomes than non-carriers can help with patient decisions on treatment and risk reduction.

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Posted 02/15/18

Expert Guidelines

National Comprehensive Cancer Network guidelines regarding who should undergo genetic counseling and testing recommend speaking with a genetics expert about genetic testing if you have been diagnosed with breast cancer and 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.
- Triple-negative breast cancer 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.
- breast cancer and are at high-risk for recurrence.
- Tumor testing shows a mutation in a gene that is associated with .

You have one or more close family members who have had:
- Young-onset or rare cancers.
- Breast cancer at age 50 or younger.
- Triple-negative breast cancer.
- Male breast cancer, ovarian cancer, pancreatic cancer or cancer at any age.
- Two separate cancer diagnoses.
- Metastatic prostate cancer or prostate cancer that is high-risk or very-high-risk.

The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 recommending that 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

What are my treatment options if I have an inherited mutation?
Are there any treatment clinical trials enrolling people with an inherited mutation?
Should I have genetic testing?

Open Clinical Trials

The following clinical trials include genetic counseling and testing.

NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women ages 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
NCT05562778: Chatbot to maximize hereditary cancer genetic risk assessment. Researchers are testing whether a mobile health platform, known as a "chatbot" can improve rates of genetic testing among Medicaid patients with an elevated risk having an inherited mutation.
NCT05427240: eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eReach2). This study will look at the effectiveness of offering web-based options for pre/post-test genetic counseling to provide equal or improved timely uptake of genetic services and testing.
NCT05694559: Connecting Black Families in Houston, Texas to Hereditary Cancer Genetic Counseling, Genetic Testing, and Cascade Testing by Using a Simple Genetic Risk Screening Tool and Telegenetics. This study will provide genetic testing to 150 Black individuals and families and provide genetic counseling and risk reduction resources to individuals with a mutation linked to increased cancer risk.

Other genetic counseling or testing studies may be found here.

Updated: 02/29/2024

Peer Support

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

FORCE peer support:
- Our Message Boards allow people to connect with others who share their situation. Once you register, 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.
- Connect online with our Private Facebook Group.
- Join our virtual and in-person support meetings.
Other organizations that offer breast cancer support:

Updated: 05/07/2024

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

The American College of Medical Genetics website has a tool to find genetics clinics by location and specialty.