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.
Cancer treatment for people with mutations
Experts are conducting research studies to learn which treatments work best for people with an inherited 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 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.
People with an mutation may qualify for clinical trials looking for more effective treatments for cancer.
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.
- Jemperli (dostarlimab) is an that is approved to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient.
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once you register, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meeting:
- Meetings in American Sign Language
- Meetings in Spanish
- People of Color
- Young Previvors
- Young Survivors
The following are studies enrolling people with advanced colorectal cancer.
- NCT03607890: Nivolumab and Relatlimab in Advanced MSI-H Cancers Resistant to Prior PD-(L)1 Inhibitor. The purpose of this study is to evaluate the safety, effectiveness, and tolerability of using the drugs nivolumab and relatlimab in patients with high (MSI-H) resistant to prior PD-(L)1 therapy.
- NCT02997228: Chemotherapy, Bevacizumab, and/or Atezolizumab for / MSI-H Colorectal Cancer (COMMIT Study). The study will compare how well a combination of chemotherapy and works compared with an drug alone.
- NCT03337087: Treating Pancreatic, Colorectal, Gastroesophageal, or Biliary Cancer with Chemotherapy and . This study will look at how the , works with chemotherapy in treating patients with pancreatic, colorectal, gastroesophageal, or biliary cancer.
- NCT04008030: Nivolumab, Nivolumab Plus Ipilimumab, or Chemotherapy for High (MSI-H) Colorectal Cancer.The study will compare the combination of agents nivolumab (Opdivo) plus ipilimumab (Yervoy) in patients who have MSI-H or colorectal cancer versus using nivolumab alone or chemotherapy.
A number of other clinical trials for patients with colorectal cancer can be found here.
The following are studies enrolling people with advanced endometrial cancer.
- NCT03981796: A Study to Evaluate Dostarlimab Plus Carboplatin-paclitaxel Versus Plus Carboplatin-paclitaxel in Participants With Recurrent or Primary Advanced Endometrial Cancer (RUBY). This study will look how safe and effective dostarlimab plus carboplatin-paclitaxel followed by dostarlimab plus is compared to plus carboplatin-paclitaxel followed by alone in people with recurrent or III or IV endometrial cancer.
- NCT03607890: Nivolumab and Relatlimab in Advanced MSI-H Cancers Resistant to Prior PD-(L)1 Inhibitor. This study will evaluate the safety, effectiveness, and tolerability of the drugs nivolumab and relatlimab in patients with high (MSI-H) resistant to prior PD-(L)1 therapy.
- NCT03955978: TSR-042 in Addition to Standard of Care Definitive Radiation for Inoperable Endometrial Cancer. The purpose of this Phase 1 trial is to evaluate dostarlimab (also known as TSR-042) compared to standard of care radiation therapy for patients with inoperable endometrial cancer to establish the safety and efficacy of inducing an anti-tumor immune response.
- NCT04106414: Study of BMS-986205 and Nivolumab in Endometrial Cancer or Endometrial Carcinosarcoma That Has Not Responded to Treatment. This study will compare the effects of treatment with the nivolumab alone to nivolumab plus the experimental drug BMS-986205.
- NCT04463771: Safety and Efficacy of Retifanlimab (INCMGA00012) Alone or in Combination With Other Therapies in Participants With Advanced or Endometrial Cancer Who Have Progressed on or After Platinum-based Chemotherapy. (POD1UM-204). This is a Phase 2 study of the PD-1 antibody retifanlimab in participants who have advanced or endometrial cancer that has progressed on or after platinum-based chemotherapy.
- NCT03241745: A Study of Nivolumab in Selected Uterine Cancer Patients. This study will test how safe, effective, and tolerable nivolumab is for people with or recurrent uterine cancer.
A number of other clinical trials for patients with endometrial cancer can be found here.