Article
A homozygous mutation in MSH6 causes Turcot syndrome.
Clinical cancer research : an official journal of the American Association for Cancer Research - 1 Jul 2005
Hegde Madhuri R, Chong Belinda, Blazo Maria E, Chin Lip Hon E, Ward Patricia A, Chintagumpala Murali M, Kim John Y, Plon Sharon E, Richards C Sue
Abstract excerpt
Heterozygous mutations in one of the DNA mismatch repair genes cause hereditary nonpolyposis colorectal cancer (MIM114500). Turcot syndrome (MIM276300) has been described as the association of central nervous system malignant tumors and familial colorectal cancer and has been reported to be both a dominant and recessive disorder. Homozygous and compound heterozygous mutations in APC, MLH1, MSH2, and PMS2 genes...
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