1. Drug Applied Research Center, Tabriz University of Medical Sciences 2. Department of Human Genetics, Faculty of Medicine, Tabriz University of Medical Sciences 3. Department of Human Genetics, Faculty of Medicine, Tabriz University of Medical Sciences 4. Department of Genetics, Faculty of Natural Sciences, University of Tabriz
As the second most common cancer worldwide sporadic colorectal cancer (crc) management can be improved dramatically by its early diagnosis using powerful screening methods. molecular analysis of certain gene mutations involved in pathogenesis of crc using fecal dna can bring forth interesting tool on the grounds of its non-invasive sensitive nature and easy applicability p53 as one of the main mutant genes in crc progression plays important roles in molecular diagnosis and crc prognosis and hence its mutations in combination with other frequently mutated genes can be used as sensitive screening tools.
the aim of this study was to evaluate the availability of mutation detection from fecal dna and its accordance with somatic mutations in tissue samples.
Stool and tissue samples were obtained from 50 previously approved crc patients who were going under surgery as routine treatment protocol. total genomic dna were extracted from each sample and p53 gene mutations were detected using sscp method followed by direct sanger sequencing.
Of 50 analyzed patients 14 individuals (28%) demonstrated various p53 gene mutations in tissue samples. the same mutations were detected from fecal dna of patients in 12 individuals that means 85.7% concordance of fecal dna with tissue dna.
Our results indicated that dna from tissue samples can be replaced with fecal dna in mutation detection for crc patients. since it is non-invasive in nature, fecal sample collection would be very desirable and acceptable for patients in molecular screening tests which can in turn increase screening rates and improve timely crc diagnosis.