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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 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:

People with an mutation may also qualify for clinical trials looking for more effective screening or prevention for cancer.

Colorectal Cancer 

  • Begin colonoscopy 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 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. Be aware of endometrial cancer symptoms and immediately report any of the following to your doctor: 
    • unusual vaginal bleeding
    • pelvic or abdominal pain
    • bloating or distended belly
    • difficulty eating
    • increased urination or pressure to urinate 
  • Screening: For people with no symptoms of endometrial cancer, regular endometrial cancer screening through transvaginal and/or endometrial biopsies does not appear to improve outcomes. Despite this, some people prefer to undergo regular screening through transvaginal and endometrial biopsies.
    • Speak with your doctor about the benefits, risks, costs and timing of transvaginal and endometrial biopsies in order to make a decision about screening.
    • For those 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. However, more research is needed to show that hysterectomy lowers the risk for death from endometrial cancer. Speak with your doctor about the benefits and risks of hysterectomy and the best timing for surgery after you have completed childbearing. 
  • Medication: Oral contraceptive pills (birth control) may lower the risk for endometrial cancer associated with . Speak with your doctor about the benefits, risks and timing of oral contraceptives. 

Ovarian cancer

  • Surgery: Removal of the ovaries and (also called risk-reducing salpingo-oophorectomy or ) can lower the risk for ovarian cancer. Speak with your doctor about the benefits and risks of  and the best timing for surgery after you have completed childbearing.
    • After , a very small risk remains (about 1-2 percent) for a related cancer known as primary peritoneal cancer (PPC). Given how rare this cancer is, experts do not recommend screening for PPC after . Be aware of symptoms of primary peritoneal cancer and report any symptoms to your doctor.
  • Symptom awareness: Experts recommend that people become 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 
  • Screening: In the absence of symptoms, some people undergo regular screening through transvaginal and CA125 blood tests. However, ovarian cancer screening does not detect ovarian cancer early. If you are not planning surgery, speak with your doctor 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 people with . Speak with your doctor about the benefits, risks and timing of oral contraceptives. 

Pancreatic cancer screening for people with a family history

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.

  • 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. 
  • 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.

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

  • 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. 

Brain cancer

  • Learn the signs of brain cancer and report any symptoms to your doctor. 

Stomach cancer

  • Begin stomach cancer screening at age 30-40 using a procedure known as EGD (esophagogastroduodenocopy) and repeat every 2-4 years. 
    • Earlier onset screening may be recommended based on family history.
    • More frequent screening may be recommended based on prior screening findings. 
  • If gastric screening is performed, considered random biopsy to test for H. pylori. If gastric biopsy is not performed, consider non-invasive testing for H. pylori.
    • People who test positive should receive treatment for H. pylori. 

Skin cancer

  • Talk with your doctor about the benefits of having a skin exam every 1-2 years with an expert trained in finding skin changes related to 

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.

Last updated March 11, 2023

Get Support
Get Support

FORCE offers many peer support programs for people with inherited mutations. 

updated: 08/06/2022

Paying For Care
Paying For Care

Health plan coverage of screening and prevention varies, and deductibles, coinsurance and copays often apply. If you need preventive services and your insurance company denies your claim, your health care provider can help you write an appeal letter, or you can use one of our sample appeal letters. If you need information about finding an insurance plan, watch our video: Choosing Wisely: How to Pick Insurance Plans.

Visit our section on Insurance and Paying for Care: Screening and Prevention for more information. 

updated: 11/15/2022

Open Clinical Trials
Open Clinical Trials

The following screening and prevention studies are open to people with

Colorectal cancer

Gynecologic cancers

 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 an in , , , , , , , , , , , , , , , and other genes. 

Pancreatic cancer

  • NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esophageal  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  mutation or other mutation linked to increased cancer risk.
  • NCT03568630: Blood Markers of Early Pancreas Cancer.  This pancreatic cancer study involves blood samples taken 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  pancreatic lesions.

Other clinical trials for patients with endometrial cancer can be found here.

 

updated: 03/09/2023