Mismatch repair cancer syndrome 1
- Synonyms
- BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTP1 SYNDROME; CHILDHOOD CANCER SYNDROME; MISMATCH REPAIR DEFICIENCY; MMR DEFICIENCY
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Gregory Idos
- Laura Valle
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (168 available)
Molecular Genetics Tests
- Microsatellite instability testing (MSI) (4)
- Deletion/duplication analysis (114)
- RNA analysis (7)
- Targeted variant analysis (19)
- Mutation scanning of select exons (6)
- Methylation analysis (1)
- Mutation scanning of the entire coding region (5)
- Sequence analysis of select exons (7)
- Sequence analysis of the entire coding region (142)
Clinical features
Help- Abnormality of the digestive system
- Adenomatous colonic polyposis
Adenomatous colonic polyposis
- MedGen UID: 358118
- Concept ID: C1868071
- Finding: Finding
Abnormality of the digestive system
- Colon adenocarcinoma
Colon adenocarcinoma
- MedGen UID: 137834
- Concept ID: C0338106
- Finding: Neoplastic Process
Abnormality of the digestive system
- Small intestine adenocarcinoma
Small intestine adenocarcinoma
- MedGen UID: 82984
- Concept ID: C0278803
- Finding: Neoplastic Process
Abnormality of the digestive system
- Adenomatous colonic polyposis
- Abnormality of the integument
- Axillary freckling
Axillary freckling
- MedGen UID: 348082
- Concept ID: C1860335
- Finding: Finding
Abnormality of the integument
- Cafe au lait spots, multiple
Cafe au lait spots, multiple
- MedGen UID: 396266
- Concept ID: C1861975
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypopigmentation of the skin
Hypopigmentation of the skin
- MedGen UID: 102477
- Concept ID: C0162835
- Finding: Disease or Syndrome
Abnormality of the integument
- Axillary freckling
- Abnormality of the nervous system
- Astrocytoma
Astrocytoma
- MedGen UID: 438
- Concept ID: C0004114
- Finding: Neoplastic Process
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Ependymoma
Ependymoma
- MedGen UID: 41825
- Concept ID: C0014474
- Finding: Neoplastic Process
Abnormality of the nervous system
- Glioblastoma multiforme
Glioblastoma multiforme
- MedGen UID: 301585
- Concept ID: C1621958
- Finding: Neoplastic Process
Abnormality of the nervous system
- Gray matter heterotopia
Gray matter heterotopia
- MedGen UID: 452349
- Concept ID: C0266491
- Finding: Finding
Abnormality of the nervous system
- Medulloblastoma
Medulloblastoma
- MedGen UID: 7517
- Concept ID: C0025149
- Finding: Neoplastic Process
Abnormality of the nervous system
- Oligodendroglioma
Oligodendroglioma
- MedGen UID: 45190
- Concept ID: C0028945
- Finding: Neoplastic Process
Abnormality of the nervous system
- Pleomorphic xanthoastrocytoma
Pleomorphic xanthoastrocytoma
- MedGen UID: 137786
- Concept ID: C0334586
- Finding: Neoplastic Process
Abnormality of the nervous system
- Plexiform neurofibroma
Plexiform neurofibroma
- MedGen UID: 64640
- Concept ID: C0206728
- Finding: Neoplastic Process
Abnormality of the nervous system
- Astrocytoma
- Neoplasm
- Leukemia
Leukemia
- MedGen UID: 9725
- Concept ID: C0023418
- Finding: Neoplastic Process
Neoplasm
- Lymphoma
Lymphoma
- MedGen UID: 44223
- Concept ID: C0024299
- Finding: Neoplastic Process
Neoplasm
- Neuroblastoma
Neuroblastoma
- MedGen UID: 18012
- Concept ID: C0027819
- Finding: Neoplastic Process
Neoplasm
- Non-Hodgkin lymphoma
Non-Hodgkin lymphoma
- MedGen UID: 6160
- Concept ID: C0024305
- Finding: Neoplastic Process
Neoplasm
- Rhabdomyosarcoma
Rhabdomyosarcoma
- MedGen UID: 20561
- Concept ID: C0035412
- Finding: Neoplastic Process
Neoplasm
- Skin basal cell carcinoma
Skin basal cell carcinoma
- MedGen UID: 1648304
- Concept ID: C4721806
- Finding: Neoplastic Process
Neoplasm
- T-cell lymphoma
T-cell lymphoma
- MedGen UID: 86957
- Concept ID: C0079772
- Finding: Neoplastic Process
Neoplasm
- Leukemia
- ACMG ACT, 2019American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019
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