Article
An MLH1 mutation links BACH1/FANCJ to colon cancer, signaling, and insight toward directed therapy.
Cancer prevention research (Philadelphia, Pa.) - 1 Nov 2010
Xie Jenny, Guillemette Shawna, Peng Min, Gilbert Candace, Buermeyer Andrew, Cantor Sharon B
Abstract excerpt
Defects in MLH1, as with other mismatch repair (MMR) proteins, are the primary cause of hereditary nonpolyposis colon cancer (HNPCC). Mutations in MMR genes often disrupt mismatch repair and MMR signaling functions. However, some HNPCC-associated mutations have unknown pathogenicity. Here, we uncover an MLH1 clinical mutation with a leucine (L)-to-histidine (H) amino acid change at position 607 that ablates MLH1...
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