Mismatch repair cancer syndrome 1
Therapeutic area
Neurology
Rare disease
No
- 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
- 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
- Severity
- Severe
- Genetic
- Hereditary
- Inborn Error of Metabolism
- Syndromic
Sources for recorded values
- Metabolic Disease
- Neurology
Sources for recorded values
- MONDO ID
- 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
- Hereditary neoplastic syndrome
- Hereditary neurological disease
- Human disease
- Inborn errors of metabolism
- Inherited disease susceptibility
- Metabolic disease
- 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 Adenocarcinomaļ¼A 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 Phase 2
- Nivolumab Phase 2
- Tislelizumab Phase 2
- Toripalimab Phase 2