Conditions / Syndrome
mismatch repair cancer syndrome
info · Syndrome
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 m
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.
Signs and symptoms
- Multiple cafe-au-lait spots
- Astrocytoma
- Agenesis of corpus callosum
- Gray matter heterotopia
- T-cell lymphoma
- Adenomatous colonic polyposis
- Basal cell carcinoma
- Rhabdomyosarcoma
- Ependymoma
- Medulloblastoma
Also known as: BTP1 syndrome; BTPS1; CMMR-D syndrome; CMMRDS; MMR deficiency