Article
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
Human mutation - 1 Mar 2010
Drost Mark, Zonneveld Jos e B M, van Dijk Linda, Morreau Hans, Tops Carli M, Vasen Hans F A, Wijnen Juul T, de Wind Niels
Abstract excerpt
The hereditary colon and endometrium cancer predisposition Lynch Syndrome (also called HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. A significant fraction of the gene alterations detected in suspected Lynch Syndrome patients is comprised of amino acid substitutions. The relevance for cancer risk of these variants is difficult to assess, as currently no time- and...
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