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mismatch repair cancer syndrome (MMRCS)

MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots.

'Turcot syndrome' classically refers to the combination of colorectal polyposis and primary tumors of the central nervous system (Hamilton et al., 1995). Trimbath et al. (2001) and Ostergaard et al. (2005) noted that the original definition of Turcot syndrome may be too restrictive, and suggested that the full manifestation of biallelic mutations in MMR genes includes the additional findings of early-onset hematologic malignancies and cafe-au-lait spots suggestive of neurofibromatosis type 1 (NF1; 162200).
Disorder is caused by homozygous or compound heterozygous mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. Heterozygous mutations in the MMR genes result in hereditary nonpolyposis colorectal cancer. Patients with familial adenomatous polyposis, an autosomal dominant disorder that results from heterozygous mutations in the APC gene, may also develop brain tumors or extracolonic malignancies, resulting in a similar clinical phenotype.

OTHER NAME(S): Turcot syndrome
brain tumor-polyposis syndrome 1
MMR DEFICIENCY
CHILDHOOD CANCER SYNDROM
BTP1 SYNDROME

ABREVIATION(S):
MMRCS
BTPS1

TYPE: nervous system (NS) cancer, gastrointestinal (GI) cancer, blood cell cancer, risk of malignant disease, CANCER

Related patway(s): Fanconi anemia (FA) pathway, mismatch repair (MMR)

DNAtraffic protein(s) related to disease: MSH2, MLH1, MSH6, PMS2

OMIM: 276300

Last modification date: July 30, 2011