Cancer treatment for people with EPCAM mutations
Experts are conducting research studies to learn which treatments work best for people with an inherited EPCAM mutation. To learn more about standard of care treatment options for specific types of cancer, visit our section on Cancer Treatment by Cancer Type.
Most cancers in people with an inherited EPCAM mutation will have a tumor biomarker known as “MSI-high" or "MSI-H" (microsatellite instability). This biomarker indicates that the tumor has a feature known as "mismatch repair deficiency," which is also known by the abbreviations dMMR or MMR-D. Testing tumors for mismatch repair deficiency or MSI-High can be important, because these tumors are more likely to respond to immunotherapy agents known as immune checkpoint inhibitors.
People with an EPCAM mutation may qualify for clinical trials looking for more effective treatments for cancer.
MSI-H colorectal cancer
- In people with stage 2 colorectal cancer, MSI-high cancers have a good prognosis and may not benefit from 5-flourouracil (chemotherapy used in colorectal cancer) adjuvant therapy.
- Keytruda (pembrolizumab) is an immune checkpoint inhibitor used to treat metastatic or advanced colorectal cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan.
- Opdivo (nivolumab) is an immune checkpoint inhibitor used alone or in combination with Yervoy (ipilimumab) for metastatic cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan.
Immune checkpoint inhibitors for treating any MSI-H cancer
- Keytruda (pembrolizumab) is approved for the treatment of any solid tumors that test MSI-H, have progressed after treatment and for which there are no other treatment options.
dMMR endometrial cancer
- Jemperli (dostarlimab) is an immunotherapy that is approved to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient.
If you have an EPCAM mutation and have been diagnosed with cancer, you can find peer support through the following resources:
- FORCE blog: Read stories submitted by people with Lynch syndrome
- Video: FORCE members with Lynch syndrome
- Register for the FORCE Message Boards to connect with others who share your situation. Once you register, you can post on the Share Your Mutation board to connect with other people who carry an EPCAM mutation and the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- FORCE's Peer Navigation Program will match you with a volunteer who shares your mutation and situation and provide you with a free resource guide.
- Contact the FORCE impact leaders in your area to link to local support groups and other resources.
- Attend a virtual support meeting in your area.
- AliveAndKickn is a nonprofit organization by and for people with Lynch syndrome.
- Lynch Syndrome International is a nonprofit organization that provides support for individuals afflicted with Lynch syndrome.
- SHARE is a nonprofit organization that provides support for women with breast and gynecologic cancers, including endometrial cancer.
- Colorectal Cancer Alliance is a nonprofit organization with a focus on colorectal cancer treatment, detection and prevention.
- Fight Colorectal Cancer is a nonprofit organization providing information and support for people affected by colorectal cancer.
- National Ovarian Cancer Coalition has an active online message board for women diagnosed with ovarian cancer.
- The Ovarian Cancer Research Alliance has a Woman to Woman program offering support to women with ovarian cancer in cities across the US.
The following cancer treatment studies may be of interest to people with an inherited EPCAM mutation.
Advanced solid tumors of any type
- NCT04082572: Pembrolizumab Before Surgery for the Treatment of Mismatch Repair Deficient Locally Advanced Solid Cancers. This trial studies how well the immunotherapy agent, pembrolizumab works before surgery in treating patients with mismatch repair deficient solid cancers that have spread to nearby tissue or lymph nodes (locally advanced).
- NCT04001101: A Randomized Phase II Study of Anti-PD-1 and Limited Metastatic Site Radiation Therapy Versus Anti-PD-1 Alone for Patients With Microsatellite Instability-high (MSI-H) and Mismatch Repair Deficient (dMMR) Metastatic Solid Tumors. To determine if treatment is improved with the addition of radiation therapy to anti-PD-1 for patients with MSI-H/dMMR metastatic solid tumors.
- NCT03607890: Study of Nivolumab and Relatlimab in Advanced Mismatch Repair Deficient Cancers Resistant to Prior PD-(L)1 Inhibitor. The purpose of this study is to evaluate the safety and clinical activity of nivolumab and relatlimab in patients with microsatellite instability high (MSI-H) solid tumors refractory to prior PD-(L)1 therapy.
- NCT03832569: Study of Pembrolizumab or Placebo Following Surgery in Patients With Microsatellite Instability High (MSI-H) Solid Tumors. This study tests the safety of the drug, pembrolizumab, and to find out how well it works to prevent cancer from coming back in people who have had a solid tumor surgically removed, but still have tumor cells in their blood.
- NCT02715284: A Phase 1 Dose Escalation and Cohort Expansion Study of TSR-042, an Anti-PD-1 Monoclonal Antibody, in Patients With Advanced Solid Tumors (GARNET).
- NCT03767348: Study of RP1 Monotherapy and RP1 in Combination With Nivolumab. RPL-001-16 is a clinical study of RP1 alone and in combination with nivolumab in adult subjects with advanced and/or refractory solid tumors, to determine the maximum tolerated dose (MTD) and recommended Phase 2 dose (RP2D), as well as to evaluate preliminary efficacy.
- NCT03589339: NBTXR3 Activated by Radiotherapy for Patients With Advanced Cancers Treated With An Anti-PD-1 Therapy. The 1100 study is an open-label, Phase I, prospective clinical study to assess the safety of intratumoral injection of NBTXR3 activated by radiotherapy in combination with anti-PD-1 therapy.
- NCT02912559: Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair. The study will compare how well treatment with a combination of chemotherapy agents and an immunotherapy agent works compared with treatment with combination chemotherapy agents alone in people with stage 3 colorectal cancer.
- NCT03436563: M7824 in Patients With Metastatic Colorectal Cancer or With Advanced Solid Tumors With Microsatellite Instability. Thistrial studies how well anti-PD-L1/TGFbetaRII fusion protein M7824 (M7824) works in treating patients with colorectal cancer (or with other solid tumors with microsatellite instability) that has spread to other places in the body or cannot be removed by surgery.
- NCT04008030: Nivolumab, Nivolumab Plus Ipilimumab, or Chemotherapy for Microsatellite Instability High (MSI-H) Metastatic Colorectal Cancer. This study will compare the combination of immunotherapy agents nivolumab (Opdivo) plus ipilimumab (Yervoy) in patients who have MSI-High or Mismatch Repair Deficient (dMMR) metastatic colorectal cancer versus using nivolumab as a single therapy or chemotherapy.
NCT02997228: Chemotherapy, Bevacizumab, and/or Atezolizumab for Patients With Deficient DNA Mismatch Repair (dMMR or MSI-H) Metastatic Colorectal Cancer, the COMMIT Study. The study will compare how well treatment with a combination of chemotherapy agents and an immunotherapy agent works compared with treatment using an immunotherapy agent alone.
- NCT02912572: Avelumab in Patients With MSS, MSI-H and POLE-mutated Recurrent or Persistent Endometrial Cancer and of Avelumab/Talazoparib in Patients With MSS Recurrent or Persistent Endometrial Cancer. This research study is evaluating a drug called Avelumab as a possible treatment for recurrent or Metastatic Endometrial Cancer.
- NCT03241745: A Study of Nivolumab in Selected Uterine Cancer Patients. The purpose of this study is to test the effectiveness, safety, and tolerability of Nivolumab on patients with metastatic or recurrent uterine cancer.
- NCT04214067: Addition of Pembrolizumab to Radiation Treatment for Newly Diagnosed Early Stage MSI-High Endometrial Cancer. This study is looking at whether the addition of the immunotherapy agent, pembrolizumab (Keytruda) to radiation therapy is more effective than radiation therapy alone in reducing the risk of cancer recurrence in patients with newly diagnosed stage I-II endometrial cancer that is MSI-High.
- NCT04019964: Nivolumab in Biochemically Recurrent dMMR Prostate Cancer. Men who previously received definitive treatment for prostate cancer and later develop detectable prostate specific antigen (PSA) levels, have biochemically recurrent prostate cancer. A non-hormonal therapy such as nivolumab would provide an alternative to ADT in patients with biomarker selected (i.e. dMMR, MSI-H, high TMB, or CDK12-altered) biochemically recurrent prostate cancer.
Visit our Research Search and Enroll Tool to find additional cancer treatment studies.