Risk management for people with inherited EPCAM mutations

The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for men and women with EPCAM 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 EPCAM mutations include information on the following cancers:

• colorectal cancer 
• endometrial cancer
• ovarian cancer
• pancreatic cancer
• urinary tract cancer
• prostate cancer
• brain cancer
• stomach cancer
• breast cancer

People with an EPCAM 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 ultrasound 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 ultrasound and endometrial biopsies.
  • Women should speak with their doctors about the benefits, risks, costs and timing of transvaginal ultrasound 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 ultrasound 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 Lynch syndrome. 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 Lynch syndrome. Women should speak with their doctors the benefits, risks and timing of oral contraceptives. 

Ovarian cancer

• Surgery: Removal of the ovaries and fallopian tubes (salpingo-oophorectomy) can lower the risk for ovarian cancer in women with Lynch syndrome. 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 ultrasound 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 ultrasound and CA125.  

• Medication: Oral contraceptive pills (birth control) may lower the risk for ovarian cancer in women with Lynch syndrome. 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 EPCAM 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 ultrasound).

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.
   

Prostate cancer

• Consider annual prostate cancer screening with PSA 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 EPCAM mutations. However, clinical trials may be available.