Read about different genes that are linked to hereditary cancer, their associated risks and guidelines for screening, preventing and treating cancers in people with inherited mutations in these genes.
Risk management for people with inherited mutations
The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for men and women with mutations. We recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you determine the best risk management plan. You can learn more about risk management options in our section on Screening and Risk Reduction by Cancer Type. In addition to the screening outlined below, NCCN recommends that men and women receive education on the signs and symptoms of cancers linked to a mutation.
People with a mutation may also qualify for clinical trials looking for more effective screening or prevention for cancer.
- Learn to be aware of changes in breasts beginning at age 18.
- Clinical breast exam every 6-12 months beginning at age 25.
- Annual breast with contrast (or if is unavailable) beginning at age 25 and continuing until age 75.
- Annual at age 30 until age 75 (consider 3D , if available).
- Screening after age 75 should be considered on an individual basis.
- Women should have a discussion with their doctors about of the advantages and disadvantages of risk-reducing mastectomy.
- Research has shown that risk-reducing mastectomy can effectively lower the risk for breast cancer in high risk women by about 90%.
- Despite this, mastectomy has not been shown to improve overall survival for high risk women. Even after mastectomies, some breast tissue-and therefore some breast cancer risk remains.
- Women should have a conversation with their doctor about the possible benefits of tamoxifen or other estrogen-blocking medications to reduce breast cancer risk in women with mutations.
- Breast self-exam training and education beginning at age 35.
- Clinical breast exam every 12 months beginning at age 35.
- Consider annual in men with gynecomastia beginning at age 50 or 10 years younger then the earliest case of male breast cancer in the family (whichever comes first).
- Risk-reducing removal of ovaries and , also known as salpingo-oophorectomy is recommended between age 40 and 45 and upon completion of childbearing.
- Women should have a discussion with their doctors about whether or not to remove their uterus (hysterectomy). Factors that may affect this decision include risk for uterine cancer, decisions about hormone replacement after surgery and medical history of fibroids or other medical issues.
- Women should have a discussion with their doctors about the effects of early menopause and options for managing them.
- Removal of the only () is being studied as an option for lowering risk in high-risk women who are not ready to remove their ovaries. Studies on the benefit of have not been completed, and at this time, it is not known if lowers the risk for ovarian cancer in high risk women. Consider enrolling in a research study looking at this procedure to lower cancer risk.
- Oral contraceptives (birth control pills) have been shown to lower the risk for ovarian cancer in women with mutations. Research on the affect of oral contraceptives on breast cancer risk has been mixed. Women should have a discussion with their doctors about the benefits and risks of oral contraceptives for lowering ovarian cancer risk.
- Routine ovarian cancer screening using transvaginal and a blood test has not shown benefit. However, some doctors still recommend screening, starting at age 30-35.
- Women should be aware of the symptoms of ovarian cancer and report abnormalities to their doctors.
American Society for Gastrointestinal Endoscopy (ASGE)
In February 2022, the ASGE released updated guidelines on pancreatic cancer screening for people with a mutation. These guidelines recommended:
- All patients with a mutation regardless of family history of pancreatic cancer, should undergo annual screening for pancreatic cancer with MRI/MRCP or EUS beginning at age 50 (or 10 years earlier than the earliest pancreatic cancer in the family).
NCCN guidelines as of March 2022 still recommend pancreatic cancer screening for those with a family history of pancreatic cancer. NCCN guidelines include the following recommendations:
- For mutation carriers with a first- or second- degree relative with pancreatic cancer consider screening beginning at age 50 or 10 years younger than the age of diagnosis of the relative.
- For people who choose pancreatic cancer screening, NCCN recommends that the screening be performed in a facility with experience in screening high-risk patients for pancreatic cancer. Before undergoing screening, people should have a conversation with their doctor about the potential benefits, risks, costs and limitations of screening.
- Consider annual screening with contrast-enhanced MRI/MRCP (magnetic resonance cholangiopancreatography) and/or EUS (endoscopic ).
- Begin cancer screening at age 40 with an annual digital rectal exam and Specific Antigen () test.
NCCN does not include guidelines for melanoma screening for people with mutations. However, some experts recommend general melanoma risk management such as a yearly full-body skin exam, a yearly eye exam and avoiding too much sun exposure.
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.