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EPCAM: Cancer Treatment
Read about different genes that are linked to hereditary cancer, their associated risks and guidelines for screening, preventing and treating cancers in people with inherited mutations in these genes.

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Cancer Treatment for People with Inherited Mutations

Testing positive for an inherited mutation may affect your treatment options or eligibility for clinical trials studying which treatments work best. To learn more about standard of care treatment options for specific types of cancer, visit our section on Cancer Treatment by Cancer Type. People with an  mutation who have been diagnosed with cancer may benefit from testing and may qualify for clinical trials looking for more effective treatments for cancer.

The following are examples of situations where an mutation may play a part in treatment decision-making. 


treatment

Most cancers in people with an inherited  mutation will have a tumor  known as " or "MSI-H" (). This  indicates that the tumor has a feature known as "," which is also known by the abbreviations or . Testing tumors for  or can be important, because these tumors are more likely to respond to  agents known as immune checkpoint inhibitors

MSI-H colorectal cancer

  • In people with 2 colorectal cancer, cancers have a good prognosis and may not benefit from 5-flourouracil (chemotherapy used in colorectal cancer) therapy. 
  • Keytruda (pembrolizumab) is an immune checkpoint inhibitor used to treat  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 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 that test MSI-H, have progressed after treatment and for which there are no other treatment options.

endometrial cancer

  • Jemperli (dostarlimab) is an that is approved to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient.

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Last updated June 24, 2024