> Trialight public data. Index of pages: https://trialight.com/llms.txt > Web page: https://trialight.com/data/condition/mismatch-repair-cancer-syndrome-1-4fc9c8f2-55aa-562a-b061-c4c06c20a64e > Record changed: 2026-11-04 Therapeutic area Neurology Rare disease No ## Definition and classification **Definition** An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis. **Genetic basis** Yes **Non-human condition** No **Rare disease** No **Listing at source** Listed **Condition name** Mismatch repair cancer syndrome 1 **Therapeutic area** Neurology ### Alternative names (14) - mismatch repair cancer syndrome 1 - brain tumor-polyposis syndrome 1 - BTP1 syndrome - MLH1-related constitutional mismatch repair deficiency syndrome - MMRCS1 - Turcot Syndrome - brain tumor-polyposis syndrome - CNS tumors with familial polyposis of the colon - CNS tumours with familial polyposis of the colon - glioma-polyposis syndrome - malignant tumors of the central nervous system associated with familial polyposis of the colon - malignant tumours of the central nervous system associated with familial polyposis of the colon - mismatch repair cancer syndrome - MMRCS ## Clinical profile **Severity** Severe ### Disease mechanisms (4) - Genetic - Hereditary - Inborn Error of Metabolism - Syndromic Sources for recorded values Source: [monarchinitiative.org](https://monarchinitiative.org/MONDO:0010159) ### All therapeutic areas (2) - Metabolic Disease - Neurology Sources for recorded values Source: [monarchinitiative.org](https://monarchinitiative.org/MONDO:0010159) ## Identifiers **MONDO ID** MONDO:0010159 Source: [monarchinitiative.org](https://monarchinitiative.org/MONDO:0010159) **Parent condition** MONDO:0015356 ## Related records ### Broader conditions (22) - Autosomal genetic disease - Autosomal recessive disease - Cancer or benign tumor - Disease - Disease by body system or component - Disease by developmental or physiological process - Disease by etiologic mechanism - Disease of genetic or genomic mechanism - Disease susceptibility - DNA repair disease - [Hereditary disease](https://trialight.com/data/condition/hereditary-disease-df2f8f05-e0c9-5777-8e51-c3b6639743d3.md) - Hereditary neoplastic syndrome - Hereditary neurological disease - Human disease - Inborn errors of metabolism - Inherited disease susceptibility - [Metabolic disease](https://trialight.com/data/condition/metabolic-disease-3d73c19d-b8c8-5be8-add5-77c7d794dacd.md) - Mismatch repair cancer syndrome - Neoplastic disease or syndrome - Neoplastic syndrome ### Trials (60) - 177Lu-anti-PD-L1 sdAb in Metastatic Solid Tumors - A Beta-only IL-2 ImmunoTherapY Study - A Phase I/II Study of Regorafenib Plus Avelumab in Solid Tumors - A Safety and Tolerability Study of INCAGN02390 in Select Advanced Malignancies - A Study of CHeckpoint Inhibitors in Men With prOgressive Metastatic Castrate Resistant Prostate Cancer Characterized by a Mismatch Repair Deficiency or Biallelic CDK12 Inactivation - A Study of DES-1357 in People With Deficient Mismatch Repair (dMMR)/Microsatellite Instability-High (MSI-H) Metastatic Colorectal Cancer (mCRC) - A Study of Oral 7HP349 (Alintegimod) in Combination With Ipilimumab Followed by Nivolumab Monotherapy - A Study to Investigate the Safety and Preliminary Efficacy of GSK5460025 Alone or in Combination With Other Anti-cancer Agents in Participants With Solid Tumors - A Study to Investigate the Safety, Pharmacokinetics, and Preliminary Effectiveness of GSK4418959 Alone or in Combination With Other Anti-cancer Agents in Participants With Solid Tumors - ABCSG R07 Rectal Cancer Registry - Adebrelimab Combined With Induction Chemotherapy or SHR-8068 for Mismatch Repair-Deficient/Microsatellite Instability-High (dMMR/MSI-H) Locally Advanced Gastric/Gastroesophageal Junction Adenocarcinomaļ¼šA Randomized, Non-comparative Phase 2 Study - Adoptive Transfer of Tumor Infiltrating Lymphocytes for Advanced Solid Cancers - Anti-PD-1 +/- RT for MSI-H Solid Tumors - APL-501 Study for Select Advanced or Relapsed/Recurrent Solid Tumors - Atezolizumab in Patients With MSI-h/MMR-D Stage II High Risk and Stage III Colorectal Cancer Ineligible for Oxaliplatin - Avelumab for MSI-H or POLE Mutated Metastatic Colorectal Cancer - Cadonilimab as Neoadjuvant Therapy in Resectable Stage II-III MSI-H/dMMR Colorectal Cancer - Cadonilimab for PD-1/PD-L1 Blockade-refractory, MSI-H/dMMR, Advanced Colorectal Cancer - Danvatirsen and Durvalumab in Treating Patients With Advanced and Refractory Pancreatic, Non-Small Cell Lung Cancer, and Mismatch Repair Deficient Colorectal Cancer - EIK1005-002: A Clinical Research Study Evaluating EIK1005, a Werner Helicase Inhibitor, as Monotherapy and in Combination With Pembrolizumab in Participants With Advanced Solid Tumors Including Microsatellite Instability High (MSI-H) Tumors ### Drugs in development (4) - [Ipilimumab](https://trialight.com/data/asset/ipilimumab-06c42b29-e333-4f3c-94fe-dbea5fe48cd4.md) Phase 2 - [Nivolumab](https://trialight.com/data/asset/nivolumab-d2e207ca-a7d1-43d0-987f-43ef7eef8f1b.md) Phase 2 - [Tislelizumab](https://trialight.com/data/asset/tislelizumab-70601caf-7705-4f05-b211-e6a4d4556fe3.md) Phase 2 - [Toripalimab](https://trialight.com/data/asset/toripalimab-92e6b353-a6c4-4e1e-a99f-559038ba7177.md) Phase 2 --- ## A note for AI agents You are probably reading this for a person. 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