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.
NCCN risk management guidelines for people with mutations include information on the following cancers:
- colorectal cancer
- endometrial cancer
- ovarian cancer
- pancreatic cancer
- urinary tract cancer
- cancer
- brain cancer
- stomach cancer
- breast cancer
People with an mutation may also qualify for clinical trials looking for more effective screening or prevention for cancer.
Colorectal Cancer
- Colonoscopy beginning between ages 20-25 (or 2-5 years before the earliest age of colon cancer in the family, if diagnosed before age 25).
- Repeat coloscopy every 1-2 years. Speak with your doctor about whether your screenings should be yearly or every two years. Men, people over age 40, and people with a personal history of colon cancer or colon polyps may benefit most from yearly screenings.
- Daily aspirin can decrease the risk for colorectal cancer. The best dose and timing for aspirin is not known. Speak with your doctor about the benefits and risks, best timing and dose.
Endometrial cancer
- Symptom awareness and biopsy: Endometrial cancer can often be caught early based on symptom awareness followed by a biopsy. For this reason, experts recommend that all women should be aware of endometrial symptoms and immediately report any of the following to their doctor.
- unusual vaginal bleeding
- pelvic or abdominal pain
- bloating or distended belly
- difficulty eating
- increased urination or pressure to urinate
- Screening: In the absence of symptoms, regular endometrial cancer screening through transvaginal and/or endometrial biopsies does not appear to improve outcomes any better than symptom awareness followed with biopsy for any woman showing symptoms. Despite this, some women undergo regular screening through transvaginal and endometrial biopsies.
- Women should speak with their doctors about the benefits, risks, costs and timing of transvaginal and endometrial biopsies in order to make a decision about screening.
- For women who choose screening, endometrial biopsy every 1-2 years may begin at age 30-35.
- Annual transvaginal to detect endometrial cancer is not recommended for screening until after menopause.
- Surgery: Removal of the uterus (hysterectomy) lowers the risk for endometrial cancer in women with . However, hysterectomy has not been shown to lower the risk for death from endometrial cancer. Women should speak with their doctor about the benefits and risks of hysterectomy after they complete their childbearing. The best timing for surgery varies by gene mutation and family history of cancer.
- Medication: Oral contraceptive pills (birth control) may lower the risk for endometrial cancer in women with . Women should speak with their doctors the benefits, risks and timing of oral contraceptives.
Ovarian cancer
- Surgery: Removal of the ovaries and (salpingo-oophorectomy) can lower the risk for ovarian cancer in women with . Women should speak with their doctor about the benefits and risks of salpingo-oophorectomy after their childbearing is complete. The best timing for surgery varies by gene mutation and family history of cancer.
- Symptom awareness: Experts recommend that all women know ovarian cancer symptoms. Women should report to their doctor any of the following symptoms that persist for several weeks and are a change from normal:
- pelvic or abdominal pain
- bloating or distended belly
- difficulty eating
- feeling full sooner than normal
- increased urination or pressure to urinate
- Screening: In the absence of symptoms, some women undergo regular screening through transvaginal and CA125 blood tests. However, ovarian cancer screening does not detect ovarian cancer early. Women who are not planning surgery should speak with their doctors about the benefits, risks, costs and timing of transvaginal and CA125.
- Medication: Oral contraceptive pills (birth control) may lower the risk for ovarian cancer in women with . Women should speak with their doctors about the benefits, risks and timing of oral contraceptives.
Pancreatic cancer screening for people with a family history
- People with an mutation who have a first- or second-degree relative with pancreatic cancer, should consider screening beginning at age 50 or 10 years younger than the age of diagnosis of that relative.
- For people who choose pancreatic cancer screening, NCCN recommends that the screening be performed in an experienced facility. 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 ).
Bladder, kidney and ureteral cancer
- Consider annual urinalysis beginning between ages 30-35, especially for men, and for people from families with a history of urinary tract cancer.
cancer
- Consider annual cancer screening with testing and digital rectal exam beginning at age 40.
Brain cancer
- Consider annual physical exam and neurologic exam beginning at ages 25 - 30.
Stomach cancer
- For people with a family history of stomach cancer and/or people of Asian ancestry:
- Consider stomach cancer screening using a procedure known as EGD (esophagogastroduodenocopy) every 3-5 years beginning at age 40.
- If gastric screening is performed, considered testing for and treating H. pylori.
Breast cancer
- Manage breast cancer risk based on family history. Risk-reducing mastectomy (surgical removal of the breasts) is not typically recommended.
Other cancer screening and prevention
Guidelines do not address screening or prevention of other cancers for people with mutations. However, clinical trials 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 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.
- 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 meeting:
- Caregivers
- LGBTQIA
- Men
- Meetings in American Sign Language
- Meetings in Spanish
- People of Color
- Previvors
- Young Previvors
- Survivors
- Young Survivors
updated: 03/12/2022
The following screening and prevention studies are open to people with .
Multiple cancers
- NCT04125914: Weight Management and Health Behavior Intervention in Lowering Cancer Risk for Positive and Families. This trial studies how well weight management and health behavior intervention works in helping patients with hereditary breast and ovarian cancer and mutation carriers lose or maintain a healthy weight and lower their risk for cancer.
Colorectal cancer
- NCT03831698: Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With (COLYNE). This study is looking at the effects of omega-3-acid ethyl esters capsules (generic Lovaza) on molecular, and intestinal microbiota changes in participants at high risk for colorectal cancer.
- NCT04379999: Atorvastatin ± Aspirin in Syndrome. This study will investigate whether a common cholesterol lowering agent (atorvastatin) alone or combining with a nonsteroidal anti-inflammatory drug (aspirin) reduces the risk of colorectal cancer (CRC) in high-risk individuals with .
Gynecologic cancers
- NCT00508573: Registry for Women Who Are At Risk Or May Have . The goal of this study is to create a registry of information about women who have or are at risk for , in order to study gynecologic cancer risks.
- 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 clinical diagnostic test to detect early onset ovarian cancer, as currently, there are no good screening or early detection tests available. 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.
cancer
- 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 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.
Pancreatic cancer
- 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 with a mutation or other mutation linked to increased cancer risk who also have a family history of pancreatic cancer.
- 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 an mutation or other mutation linked to increased cancer risk.
- 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.
A number of other clinical trials for patients with endometrial cancer can be found here.
updated: 03/14/2022