FREQUENCY OF THE CDH1 GENE MUTATIONS IN THE DIGESTIVE CANCER
Abstract:
Genetic alterations associated with the development of digestive cancer are often observed.
The most frequent mutations are small deletions or insertions. The aim of this study was to detect
CDH1gene mutations encompassing 16 exons by MLPA technique (Multiplex Ligation – dependent
Probe Amplification) in a group of 12 patients with digestive cancer. Genomic DNA isolated from blood,
tumour tissue and healthy tissue (as a control for MLPA) was amplified by PCR and than analyzed by
capillary electrophoresis on ABI PRISM™ 310 Genetic Analyzer (Applied Biosystems). In the case of
MLPA analysis 58.33% of patients had alteration such as deletion or insertion. These results will be
helpful to understand the mutation spectrum of the frequent CDH1 gene involved in digestive cancer
pathology. Our study continues with larger samples required to establish a genetic profile for both highrisk
and Romanian cancer patients with sporadic digestive cancer.
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