I've Tested Positive, Now What?
Risk management for people with inherited mutations
The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for people 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 decide on a plan to manage your risk. You can learn more about risk-management options in our section on Screening and Risk Reduction by Cancer Type. Note that when we use "men" and "women" we are referring to the sex you were assigned at birth.
Breast cancer screening and prevention for women
- Begin mammograms at age 40, or earlier based on the family history of breast cancer.
- Have a discussion with your doctor about of the benefits and risks of yearly with contrast beginning at age 30-35.
- Have a discussion with your doctor about the option of risk-reducing mastectomy based on your personal and family history of breast cancer.
- Tamoxifen and other drugs that block estrogen can reduce breast cancer risk in high-risk women. More research is needed to prove that they are effective for women with mutations.
Ovarian cancer screening and prevention
- There has not been enough research to show a benefit from ovarian cancer screening and prevention in people who have an mutation. For this reason, experts recommend managing ovarian cancer risk based on family history of cancer.
- Symptom awareness: Be aware of ovarian cancer symptoms. Report to any of the following symptoms that persist for several weeks and are a change from normal to your doctor:
- pelvic or abdominal pain
- bloating or distended belly
- difficulty eating
- feeling full sooner than normal
- increased urination or pressure to urinate
Pancreatic cancer screening
There are two tests that are used to look for pancreatic cancer.
- Contrast-enhanced magnetic resonance cholangiopancreatography (MRCP) is a special type of imaging that looks closely at the pancreas, liver, gallbladder, bile duct and pancreatic duct to find abnormalities such as cancer.
- Endoscopic (EUS) involves passing a tiny scope with an attached probe down the esophagus to the stomach. This allows doctors to look closely at the pancreas.
Pancreatic cancer screening for people with an mutation is only recommended for people with a family history of pancreatic cancer.
- 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.
- Before undergoing screening, you should have a conversation with your doctor about the benefits, risks, costs and limitations of screening.
- Screening includes annual contrast-enhanced MRI/MRCP (magnetic resonance cholangiopancreatography) and/or EUS (endoscopic ).
- Screening should be done at a facility with experience in screening high-risk patients for pancreatic cancer.
- By age 40, you should have a conversation with your doctor about the potential benefits, risks, costs and limitations of screening for cancer.
- If you choose to have screening, the guidelines recommend an annual digital rectal exam and Specific Antigen () test.
Other cancer screening and prevention
There has not been enough research to show a benefit from screening and prevention for other cancers in people who have an mutation. For this reason, experts recommend managing these risks based on your family history. Cancer screening and prevention research studies may be available.
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 risk-management studies enrolling people with inherited mutations. Check study listings or contact the study team to see if you are eligible.
- NCT02665195: Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry for people who have had genetic panel testing. The goal of the PROMPT Registry is to follow people with mutations or variants in genes on these panels, so that patients, physicians and researchers can more clearly understand these lesser-known risks. This study is open to people with an inherited mutation or in a number of different genes, including: , , , , , , and others.
- 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.
- 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 , , , , , HOXB13, , , , and other inherited mutations.
- NCT05129605: Cancer Genetic Risk Evaluation and Screening Study (PROGRESS). This study will look at how well MRI works as a screening tool for men at high risk for cancer. This study is open to men with inherited mutations in , , , , , , HOXB13, , , , , , , , , and other genes.
- 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.
- 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.
- 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 an inherited mutation in one of the following genes: , , , CDKN2A, , or .
- 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.