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MISMATCH REPAIR CANCER SYNDROME
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| 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. |
DNA repair proteins related with MISMATCH REPAIR CANCER SYNDROME (#276300 ) disease:
Following keywords are related to MISMATCH REPAIR CANCER SYNDROME:
Last modification of this entry: Nov. 11, 2010.
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