Hereditary Cancer and Genetic Testing

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:

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 30-35 (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. You should 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 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 about the benefits, risks and timing of oral contraceptives. 


Other cancers

NCCN includes the following cancers in their guidelines for risk management in people with mutations. However, they note that there is very little evidence of increased risk or benefit from management (unless there is a family history):


Ovarian cancer

  • Surgery: According to experts, there is not enough evidence to recommend removal of the ovaries and (salpingo-oophorectomy) for all women with a  mutation. Women should speak with their doctor about the benefits and risks of salpingo-oophorectomy after they complete their childbearing. For women who decide on surgery, the best timing for surgery is unknown.

 

  • Symptom awareness: Experts recommend that all women should be aware of 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 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 a  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

  • For people from families with a history of urinary tract cancer, consider annual urinalysis beginning between ages 30-35. 


Brain cancer

  • Consider annual physical exam and neurologic exam beginning at age 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.

find-support find-support

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

updated: 03/12/2022

paying-for-service paying-for-service

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

updated: 01/23/2022

clinical-trials clinical-trials

The following screening and prevention studies are open to people with

Multiple cancers

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 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

Last updated March 17, 2022