Article
Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.
Human mutation - 1 Jun 2015
Hesson Luke B, Packham Deborah, Kwok Chau-To, Nunez Andrea C, Ng Benedict, Schmidt Christa, Fields Michael, Wong Jason W H, Sloane Mathew A, Ward Robyn L
Abstract excerpt
Lynch syndrome is a hereditary cancer syndrome caused by a constitutional mutation in one of the mismatch repair genes. The implementation of predictive testing and targeted preventative surveillance is hindered by the frequent finding of sequence variants of uncertain significance in these genes. We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1...
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