Rapid Detection Method for the Four Most Common CHEK2 Mutations Based on Melting Profile Analysis.

ABSTRACT:

Introduction

CHEK2 is a tumor suppressor gene, and the mutations affecting the functionality of the protein product increase cancer risk in various organs. The elevated risk, in a significant percentage of cases, is determined by the occurrence of one of the four most common mutations in the CHEK2 gene, including c.470T>C (p.I157T), c.444+1G>A (IVS2+1G>A), c.1100delC, and c.1037+1538_1224+328del5395 (del5395).

Methods

We have developed and validated a rapid and effective method for their detection based on high-resolution melting analysis and comparative-high-resolution melting, a novel approach enabling simultaneous detection of copy number variations. The analysis is performed in two polymerase chain reactions followed by melting analysis, without any additional reagents o

SUBMITTER: Borun P 

PROVIDER: S-EPMC4654745 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature