A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndrome

Arti S Pandey, Sudip Shrestha

Indian Journal of Cancer 2018 55(4):410-412

A novel mutation in the MLH1 gene likely to be pathogenic for Lynch syndrome was discovered in a proband with a family history of colon cancer. Immunohistochemistry showed negative expression of PMS2 and MLH1 in the resected tumor sample. The mutation lies at the highly conserved C-terminus of the MLH1 protein, the region through which it dimerizes with PMS2 to carry out its mismatch repair function.

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