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Indian J Cancer. 2018 Oct-Dec;55(4):410-412. doi: 10.4103/ijc.IJC_349_18.

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

Author information

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.

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.

KEYWORDS:

Hereditary colon cancer; Lynch syndrome; MLH1 variant; MMR genes; MutLĪ±

PMID:
30829280
DOI:
10.4103/ijc.IJC_349_18
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