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

Pandey, Arti SShrestha, Sudip2020-01-022020-01-022018-10Pandey 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): 410-4120019-509Xhttp://imsear.searo.who.int/handle/123456789/190400A 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.A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndromeJournal ArticleIndiaOnco-Genetics Unit, Nepal Cancer Hospital and Research Centre, Harisiddhi, Lalitpur, NepalDepartment of Medical Oncology, Nepal Cancer Hospital and Research Centre, Harisiddhi, Lalitpur, Nepal