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Mismatch repair cancer syndrome 3

MONDO:0030841

An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH6 mismatch repair gene is characterized by a high risk of childhood cancers, including hematological malignancies, brain tumors, and colorectal

Also known as: MMRCS3, MSH6-related constitutional mismatch repair deficiency syndrome, mismatch repair cancer syndrome 3

3 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) DNA repair disease (13) Mismatch repair cancer syndrome (5) Autosomal recessive disease (4) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0)
Trials to join now! 1 Not yet finished but already full! 1 Completed 1
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  • 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: PHASE1 • Sponsor: M.D. Anderson Cancer Center • Aim: Disease control

    Last updated Jun 27, 2026 12:32 UTC

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