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Figure 1 | Hereditary Cancer in Clinical Practice

Figure 1

From: Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays

Figure 1

Mismatch repair functions tested in Step 3 assays. Step 3 assays have been designed to test the effects of cancer-associated VUS in various aspects of mismatch repair function. These assays test VUS effects on mRNA splicing, protein expression levels, ability to interact with other mismatch repair proteins including known heterodimer partners, cellular localization, DNA mismatch binding, ATP binding and hydrolysis, repair and cell cycle checkpoint and apoptosis activation in response to certain mutagenic reagents.

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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287