Term Name: | mismatch repair cancer syndrome |
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Synonyms: | brain tumor-polyposis syndrome 1, BTP1 syndrome, BTPS1, childhood cancer syndrome, CMMR-D syndrome, CMMRDS, constitutional mismatch repair deficiency syndrome, MMR deficiency, Turcot syndrome |
Definition: | A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. |
Ontology: | Human Disease [DOID:0112182] ( DOID:0112182 ) |