A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndrome
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Date
2018-10
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Indian Cancer Society
Abstract
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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Pandey Arti S, Shrestha Sudip. A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndrome. Indian Journal of Cancer. 2018 Oct; 55(4): 410-412