Risk Management for People with Inherited Mutations
The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for men and women with mutations. These are listed below. We also 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. Consider enrolling in a research study looking at other ways to screen for or prevent cancer. Note that when we use the terms "boys" and "girls" and "men" and "women" we are referring to the sex assigned at birth.
Risk management for children
An inherited mutation can increase the risk for cancer beginning during childhood. Risk management for some cancers begins at a young age.
- Girls should have an annual exam by a doctor to look for evidence of early-onset puberty beginning at age 8.
- Boys should have an annual exam by a doctor to look for cancer of the testicles or evidence of feminizing changes beginning at age10.
- Boys and girls should have a colonoscopy, upper endoscopy and small bowel exam using CT, or video capsule endoscopy starting at age 8-10 with followup every 2-3 years depending on if abnormalities are found.
Risk management for adults
- Breast cancer
- Ovarian, cervical and endometrial cancer
- Testicular cancer
- Gastrointestinal cancers
- Pancreatic cancer
- Other cancer risks
- Learn to be aware of changes in your breasts beginning at age 18.
- Breast exam by doctor every 6-12 months beginning at age 30.
- Yearly breast with contrast and yearly beginning at age 30.
- Have a discussion with your doctor about of the benefits and risks of double mastectomy.
- Risk-reducing mastectomy can lower the risk for breast cancer by about 90%. Despite this, mastectomy may not increase your overall survival.
- Even after double mastectomy, some breast tissue is left over, and therefore some breast cancer risk remains after surgery.
- Tamoxifen and other estrogen-blocking drugs may reduce breast cancer risk for high-risk women, but more research is needed to prove this in people with an mutation.
- Yearly pelvic exam and Pap smear beginning at age 18-20.
- Yearly testicular exam and observation for feminizing changes (e.g., breast enlargement) beginning at age 10 and continuing through adulthood.
- Colonoscopy every 2-3 years beginning in late teens.
- Upper endoscopy every 2-3 years beginning in late teens.
- Small bowel screening with CT or . Baseline at age 8-10 years.After baseline exam, follow-up small bowel screening every 2-3 years, beginning at age 18.
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.
NCCN guidelines recommend that people with an mutation have a conversation with their doctor about the benefits, risks and costs of pancreatic cancer screening. NCCN guidelines include the following recommendations:
- Consider pancreatic cancer screening every 1-2 years, beginning at age 30-35 (or 10 years younger than the earliest case of pancreatic cancer in the family), using MRI/MRCP and/or EUS.
- Screening should be performed in a facility with experience in screening high-risk patients for pancreatic cancer.
- Learn about the risks and signs of lung cancer and the benefits of quitting smoking.
There has not been enough research to show a benefit from screening and prevention for other cancers in people who have a mutation. For this reason, experts recommend managing other cancer risks based on family history. Cancer screening and prevention research studies may be available for people with mutations.
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 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 , , , , , , , , , 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 , , , , , , , , , , , , , , , 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 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.