mismatch repair cancer syndrome

Term ID

DOID:0112182

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. (2)

References

• OMIM:276300
• ORDO:252202

Ontology

Human Disease   ( DOID:0112182 )