一名林奇综合征患者该基因中的一种新型移码突变。

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

作者信息

Pandey Arti S, Shrestha Sudip

机构信息

Onco-Genetics Unit, Nepal Cancer Hospital and Research Centre, Harisiddhi, Lalitpur, Nepal.

Department of Medical Oncology, Nepal Cancer Hospital and Research Centre, Harisiddhi, Lalitpur, Nepal.

出版信息

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

DOI:10.4103/ijc.IJC_349_18

PMID:30829280

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.

摘要

在一名有结肠癌家族史的先证者中发现了一种可能导致林奇综合征的MLH1基因新突变。免疫组织化学显示，在切除的肿瘤样本中PMS2和MLH1呈阴性表达。该突变位于MLH1蛋白高度保守的C末端，MLH1蛋白通过该区域与PMS2二聚化以执行其错配修复功能。