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

Arti S Pandey, Sudip ShresthaIndian 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.
Source: Indian Journal of Cancer - Category: Cancer & Oncology Authors: Source Type: research