Cancer risk associated with inherited mutations
If you have tested positive for a mutation, we recommend that you consult with a genetics expert who can assess your personal and family history of cancer, and help you determine the best risk management plan. Compared with people in the general population, people with mutations have a higher risk for several cancers. The average age of a cancer diagnosis tends to be younger in people with a mutation than in people who do not have a mutation. The risks listed below are estimates based on different large studies.
Risks in women
- Breast cancer: The lifetime risk with a mutation is about 60 percent, compared with 12.5 percent for a woman of average risk.
- Ovarian cancer: The lifetime risk with a mutation is about 15-30 percent, compared with 1.3 percent for a woman of average risk.
- Second breast cancer in women who have already been diagnosed with breast cancer: The lifetime risk is about 25 percent.
Risks in men
- cancer: The lifetime risk for a man with a mutation is about 20-60 percent, compared with 12 percent for a man of average risk. cancer in men with an inherited mutation may be more aggressive than in men without an inherited mutation.
- Male breast cancer: The lifetime risk for a man with a mutation is about 2-7 percent. Breast cancers in men with inherited mutations tend to occur at a younger age than in men without inherited mutations.
Risks in all people
- Pancreatic cancer: The lifetime risk for a person with a mutation is about 5-10 percent compared with 1 percent for a person of average risk.
- Research on how mutations in the gene affect cancer risk is ongoing. Some research suggests that mutations may increase risk for melanoma. However, because these studies are not conclusive, genetics experts often look at a person’s family history of cancer to help people with mutations understand their risk for additional cancers.
It is important to note that cancer risks are estimates over the course of a person's lifetime. Your lifetime risk and risk over the next five years will vary depending on:
- current age
- gender assigned at birth
- specific mutation
- personal and family health history
- diet, exercise, lifestyle and other factors
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.
The following are studies looking at level of risk or risk-management for people with inherited or mutations. Check study listings or contact the study team to see if you are eligible.
- NCT04367675: Testing a Vaccine for Cancer Prevention in People with a or Mutation. This study will look at a new vaccine known as INO-5401 used alone or combined with a second vaccine called INO-9012. The study will test if the vaccine is safe and if it activates the immune system. A goal of this research is to reduce cancer risk in people with a or mutation.
- 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 this high-risk population.
- Identification and Analysis of Families With Genetic Susceptibility To Cancer Registry. The research laboratory at the Abramson Cancer Center is studying genetic sources of cancer risk. A number of research projects are performed in collaboration with this registry.
- NCT00579488: Clinical Significance of Germline Mutations. The goal of this study is to help us learn more about the roles of genes and cancers that run in families.
- NCT04711109: Denosumab for Preventing Breast Cancer in Women with a Inherited Mutation (BRCA-P). This study will test the effectiveness of a drug (denosumab) on preventing the development of breast cancer in women with an inherited mutation.
- NCT03805919: Men at High Genetic Risk for Cancer. This is a cancer screening study using in high risk men. This study is open to men with , and other inherited mutations.
- Validating a Blood Test for Early Ovarian Cancer Detection in High-risk Women and Families: MicroRNA Detection Study (MiDE). The goal of MiDe is to develop a test to detect ovarian cancer. Participants can be expected to provide up to 4 tubes of blood every 6 months for up to 5 years. We can collect these samples through mobile phlebotomy all around the US. The study is enrolling people with , and other mutations.
- NCT04251052: A Study to Compare Two Surgical Procedures in Women with Mutations to Assess Reduced Risk of Ovarian Cancer (SOROCk). This study is looking at whether removal of just the can reduce the risk of ovarian cancer nearly as much as removing both the ovaries and among women with an inherited mutation.
- NCT05287451: Risk Reducing With Delayed as an Alternative to Risk- Reducing Salpingo-oophorectomy in High Risk-Women to Assess the Safety of Prevention. This study will look at outcomes in women with , , , and who remove their first, followed by removal of their ovaries compared to women who undergo standard-of-care removal of their ovaries and at the same time.
- NCT04794322: Developing a Test for the Detection of Ovarian Cancer. The study aims to develop a test for early detection of ovarian cancer using from a growth involving the ovary found in a washing of the uterus (womb), and proteins found in the blood. Participants will not receive the results of their test.
- NCT03250078: A Pancreatic Cancer Screening Study in Hereditary High Risk Individuals. The main goal of this study is to screen and detect pancreatic cancer and precursor lesions in individuals with a strong family history or genetic predisposition to pancreatic cancer. and Magnetic cholangiopancreatography (MRI/MRCP) will be utilized to screen for early pancreatic lesions.
- NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esopheal to screen for pancreatic cancer in high risk people. The study is open to people who have a family history of pancreatic cancer and an inherited mutation in , or other genes.
- NCT03568630: Blood Markers of Early Pancreas Cancer. This pancreatic cancer study involves blood samples over time to look for biomarkers of pancreatic cancer in high risk people. The study is open to people with a mutation linked to increased cancer risk.
- NCT02478892: Preliminary Evaluation of Screening for Pancreatic Cancer in Patients with an Inherited Genetic Risk Due to a , , or Mutation. This study uses and endoscopic to screen for pancreatic cancer in people with a BRCA1/2, or mutation.
Additional risk-management clinical trials for people with inherited mutations may be found here.