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Mismatch repair cancer syndrome 1
rareAn 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.
- Identifiers
- MONDO:0010159 OMIM:276300
- Causal genes
- MLH1
- Part of
- Hereditary neoplastic syndromeHereditary neurological diseaseMismatch repair cancer syndrome
- Also known as
- brain tumor-polyposis syndrome · brain tumor-polyposis syndrome 1 · BTP1 syndrome · CNS tumors with familial polyposis of the colon · CNS tumours with familial polyposis of the colon
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