Mismatch repair cancer syndrome

MONDO:0031219

A 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.

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Where it sits in the disease tree

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Part of

↑ Autosomal recessive disease (999) ↑ DNA repair disease (105)

Sub-types of Mismatch repair cancer syndrome

Mismatch repair cancer syndrome 1 34 trials
Mismatch repair cancer syndrome 2 0 trials
Mismatch repair cancer syndrome 3 0 trials
Mismatch repair cancer syndrome 4 0 trials

Including sub-types (39) Tagged with Mismatch repair cancer syndrome (5)

Trials to join now! 15 Not yet recruiting 9 Not yet finished but already full! 14 Completed 1

New drug combo shows promise for Hard-to-Treat cancers

Disease control Completed

This early-stage study tested two drugs, cabozantinib and pamiparib, together in 44 people with advanced solid tumors that had stopped responding to standard treatments. The goal was to find the safest dose and understand side effects. The drugs work by blocking certain enzymes t…

Phase 1 • Sponsor: M.D. Anderson Cancer Center • Aim: Disease control

Last updated Jun 27, 2026 12:32 UTC

Mismatch repair cancer syndrome

Where it sits in the disease tree

New drug combo shows promise for Hard-to-Treat cancers