Mismatch repair cancer syndrome
MONDO:0031219A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.
Also known as: constitutional mismatch repair deficiency syndrome
39 clinical trials for this condition and its sub-types, 5 tagged with Mismatch repair cancer syndrome itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Mismatch repair cancer syndrome
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Mismatch repair cancer syndrome 1 34 trials
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Mismatch repair cancer syndrome 2 0 trials
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Mismatch repair cancer syndrome 3 0 trials
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Mismatch repair cancer syndrome 4 0 trials
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Could an immune booster help kids fight deadly brain cancer?
Disease control OngoingThis early-stage trial is testing the safety and potential benefit of pembrolizumab, an immunotherapy drug, in 71 children whose brain tumors (like DIPG, high-grade gliomas, or medulloblastoma) have come back or not responded to standard treatments. The drug works by helping the …
Phase 1 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jul 22, 2026 00:00 UTC
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Childhood cancer immunotherapy trial pulled before it started
Disease control CancelledThis study was designed to test two immunotherapy drugs, nivolumab and ipilimumab, in children and young adults with cancers that returned or didn't respond to treatment and had many genetic mutations. The goal was to see if the drug combination was safe and could shrink tumors. …
Phase 1 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jun 27, 2026 13:08 UTC