Hereditary Cancer and Genetic Testing

Cancer risk associated with inherited EPCAM mutations

If you have tested positive for an EPCAM mutation, we recommend speaking with a genetics expert who can look at your personal and family history of cancer, and can help you decide on the best risk-management plan.

EPCAM cancer risks are presumed to be similar to cancer risk for another Lynch syndrome gene, MSH2 gene, including the following:

Risk for cancer in people with an EPCAM mutation. Source: NCCN: Genetic/Familiar High-Risk Assessment: Colorectal Version 1.2020
Cancer type Lifetime risk with for people with EPCAM mutation Lifetime risk for people in general population Average age of diagnosis for people with EPCAM mutation Average age of diagnosis for people in the general population
Colorectal 33 - 52% 4.2% 44 years 68 - 72 years
Endometrial 21 - 57% 3.1% 47 - 48 years 60 years
Ovarian 8 - 38% 1.3% 43 years 63 years
Kidney/ureter 2.2 - 28% 1.2% 54 - 61 years Not specified
Bladder 4.4 - 12.8% 2.4% 59 years 73 years
Gastric  0.2 - 9% 0.9% 52 years 68 years
Small bowel 1.1 - 10% 0.3% 48 years 60s - 70s
Prostate 3.9 - 15.9% 11.6% 59 - 63 years 66 years
Brain  2.5 - 7.7% 0.6% No data 59 years
Biliary tract .02 - 1.7% 0.2% 57 years 70 - 72 year

People with an inherited EPCAM mutation may have an increased risk for other cancers. The exact risks for the following cancers are unknown:

  • pancreatic cancer
  • sebaceous skin growths
  • female breast cancer

Research on how inherited mutations in the EPCAM gene affect cancer risk is ongoing.

Lifetime risk for colorectal cancer for people with <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-epcam'
                title='<p>EPCAM is a gene found on chromosome 2.&nbsp;Mutations in EPCAM&nbsp;are associated with Lynch Syndrome. People with Lynch Syndrome have an&nbsp;increased the risk for&nbsp;colon, uterine, ovarian, pancreatic and other cancers.&nbsp;</p>

<p>Also see Lynch Syndrome.&nbsp;</p>
'
            >EPCAM</abbr> mutations     Graph of lifetime risk for endometrial cancer in women with an <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-epcam'
                title='<p>EPCAM is a gene found on chromosome 2.&nbsp;Mutations in EPCAM&nbsp;are associated with Lynch Syndrome. People with Lynch Syndrome have an&nbsp;increased the risk for&nbsp;colon, uterine, ovarian, pancreatic and other cancers.&nbsp;</p>

<p>Also see Lynch Syndrome.&nbsp;</p>
'
            >EPCAM</abbr> mutation

Lifetime risk for ovarian cancer in women with <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-epcam'
                title='<p>EPCAM is a gene found on chromosome 2.&nbsp;Mutations in EPCAM&nbsp;are associated with Lynch Syndrome. People with Lynch Syndrome have an&nbsp;increased the risk for&nbsp;colon, uterine, ovarian, pancreatic and other cancers.&nbsp;</p>

<p>Also see Lynch Syndrome.&nbsp;</p>
'
            >EPCAM</abbr> mutations     Lifetime bladder cancer risk in a person with an <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-epcam'
                title='<p>EPCAM is a gene found on chromosome 2.&nbsp;Mutations in EPCAM&nbsp;are associated with Lynch Syndrome. People with Lynch Syndrome have an&nbsp;increased the risk for&nbsp;colon, uterine, ovarian, pancreatic and other cancers.&nbsp;</p>

<p>Also see Lynch Syndrome.&nbsp;</p>
'
            >EPCAM</abbr> mutation

     Graph of lifetime prostate cancer risk in men with <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-epcam'
                title='<p>EPCAM is a gene found on chromosome 2.&nbsp;Mutations in EPCAM&nbsp;are associated with Lynch Syndrome. People with Lynch Syndrome have an&nbsp;increased the risk for&nbsp;colon, uterine, ovarian, pancreatic and other cancers.&nbsp;</p>

<p>Also see Lynch Syndrome.&nbsp;</p>
'
            >EPCAM</abbr> mutation     Lifetime risk for kidney or ureteral cancer

clinical-trials
  • NCT00508573: Registry for Women Who Are At Risk Or May Have Lynch Syndrome. The goal of this study is to create a registry of information about women who have or are at risk for Lynch syndrome, in order to study gynecologic cancer risks.
  • The HEROIC Registry allows people with Lynch syndrome to contribute medical information and their experiences living with Lynch Syndrome and its associated cancers to help researchers develop new treatments, understand the various Lynch genetic mutations, and conduct further studies and clinical trials. The registry is maintained by the nonprofit organization AliveAndKickn.