Study: Survival and mutation status in breast cancer patients under age 40
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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 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 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.
POSH ( Outcomes in Sporadic versus Hereditary) breast cancer is an ongoing study in the United Kingdom. It is the largest study on outcomes in young breast cancer patients with and without a 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 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 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 mutation who develops breast cancer, this study confirms that your survival outcome is similar to young breast cancer patients without mutations. Interestingly, this study also showed that if you are a mutation carrier with , you have a survival advantage during the first 2 years after diagnosis compared to patients who are non-carriers.
Read our related Headline Hype blogs on the misleading media coverage of this research.
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Copson ER, Maishman TC, Tapper WJ, et al. “ mutation and outcome in young-onset breast cancer (POSH): a 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 relevant for:
Young breast cancer patients
This article is also relevant for:
Triple negative breast cancer
People with a genetic mutation linked to cancer risk
Breast cancer survivors
Women under 45
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IN-DEPTH REVIEW OF RESEARCH
POSH ( Outcomes in Sporadic versus Hereditary) breast cancer is a large, 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 or mutation
- 558 women (20%) had ()
- mutations were identified in 136 (24%) of patients
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 mutations who had . 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.
Since study participation was restricted to women age 40 or younger, these results may not translate to mutation carriers who are older when diagnosed. It’s also important to note that during the study recruitment period (between 2000 and 2008), 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 and is unknown.
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.
Understanding survival outcomes in young 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 or 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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The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. If you have been diagnosed with breast cancer, you should speak with a genetics expert about genetic testing if any of the following apply to you:
- You have a blood relative who has tested positive for an inherited mutation
- You have any of the following:
- Breast cancer at age 50 or younger
- Male breast cancer at any age
- Ovarian cancer at any age
- at any age
- Two separate breast cancer diagnoses
- Eastern European Jewish ancestry and breast cancer at any age
- breast cancer
- Testing of your tumor shows a mutation in a gene that is associated with
- breast cancer and high risk for recurrence
- Lobular breast cancer and a family history of diffuse gastric cancer
- You have one or more close family members who have had:
- Young-onset or rare cancers
- Breast cancer at age 50 or younger
- Male breast cancer, ovarian cancer, pancreatic cancer, or cancer at any age
- Two separate cancer diagnoses
- cancer at age 55 or younger or prostate cancer
The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 that recommend 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.
- 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?
Below are clinical trials that include genetic counseling and testing.
- NCT02665195: Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes.
- NCT04245176: Genetic Testing for All Breast Cancer Patients (GET FACTS). This study looks at the impact of a novel genetic counseling method on surgical decisions in people with newly diagnosed breast cancer. This study involves genetic counseling about risk.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women age 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- Enhancing Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer. This study will test how well educational materials increase the use of knowledge about risk.
- NCT04476654: Improving Uptake of Genetic Cancer Risk Assessment in African American Women-Video. This study looks at the usefulness of intervention with a culturally-tailored video to improve uptake of genetic counseling in Black women who are at increased risk of .
Other genetic counseling or testing studies may be found here.
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.
- Joing our virtual and in-person support meetings
- Other organizations that offer breast cancer support:
Health care providers who are specially trained in genetics can help you more clearly understand your risk for . The following resources can help you locate a genetics expert in your area.
- The National Society of Genetic Counselor website offers a searchable directory for finding a genetic counselor by state and specialty. To find a genetic counselor who specializes in cancer genetics, choose "cancer" under the options "Area of Practice/Specialization."
- 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.
- JScreen is a national program based out of 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.
- FORCE's toll-free helpline at: 866-288-RISK, ext. 704 will connect you with a volunteer board-certified genetic counselor who can answer general questions about genetic testing and cancer and help you find a genetics expert near you.
- FORCE Peer Navigator Program will match you with a volunteer who has undergone genetic counseling and can help you navigate resources to find a genetic counselor near you.
- Ask your doctor for a referral to a genetics expert.
Who covered this study?
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
A gene that ‘causes cancer’ probably doesn’t increase your chances of dying from cancer This article rates 1.0 out of 5 stars
The ‘deadly breast cancer gene’ Is a myth, Lancet study confirms This article rates 0.0 out of 5 stars