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 CASE REPORT
Year : 2018  |  Volume : 55  |  Issue : 4  |  Page : 410-412

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


1 Onco-Genetics Unit, Nepal Cancer Hospital and Research Centre, Harisiddhi, Lalitpur, Nepal
2 Department of Medical Oncology, Nepal Cancer Hospital and Research Centre, Harisiddhi, Lalitpur, Nepal

Correspondence Address:
Arti S Pandey
Onco-Genetics Unit, Nepal Cancer Hospital and Research Centre, Harisiddhi, Lalitpur
Nepal
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijc.IJC_349_18

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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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