SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT02596113

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Νew Molecular Biomarkers for the Prevention and Early Detection of Precancerous or Cancerous Colorectal Lesions During Screening for Colorectal Cancer

The investigators designed a prospective study to evaluate the predictive ability of detection of mutations in genes involved in carcinogenesis of the colon (eg hMLH1, K-Ras, B-Raf, ccfDNA) in a sample of Greek population presents for conducting colonoscopy in the context of screening under international CRC prevention instructions. This investigation will be carried out in individuals in normal risk in order to study specific mutations (in blood and tissue) to draw reliable conclusions about whether we can detect (with greater sensitivity and specificity) patients with precancerous lesions or CRC with a simple blood test thereby reducing the cost and side effects of repeated endoscopic procedures.

NCT02596113 Colorectal Cancer
MeSH: Colorectal Neoplasms
HPO: Neoplasm of the large intestine


Primary Outcomes

Measure: Genes' mutations rate in patients who are submitted screening colonoscopy and they presented with no endoscopic findings

Time: 1 month

Measure: Genes' mutations rate in patients who are submitted screening colonoscopy and they presented with adenomatous polyp bigger than 1 cm

Time: 1 month

Measure: Genes' mutations rate in patients who are submitted screening colonoscopy and they presented with cancerous lesion

Time: 1 month

Time Perspective: Prospective

Case-Control


There is one SNP

SNPs


1 V600E

From all these three populations, samples would be collected from peripheral blood (plasma) and colon tissue biopsy (normal or abnormal, respectively) in order to find a possible common mutations of some genes involved in the pathogenesis of the CRC in these 3 groups [e.g. in KRAS12, 13, 61, BRAF (V600E), ccfDNA some point mutations in hMLH1]. --- V600E ---



HPO Nodes


HPO:
Neoplasm of the large intestine
Genes 120
FLCN SDHC MLH1 PMS2 APC EPCAM SDHC PALLD SRC BUB1 APC GREM1 NTHL1 PMS1 PTEN SDHB MSH6 APC KIT SDHD KRAS BMPR1A FAN1 CTNNB1 MSH3 POLD1 KRAS RNF43 KEAP1 DICER1 DLC1 BMPR1A MSH2 MSH6 PIK3CA CDKN2A FGFR3 BMPR1A MUTYH PIK3CA BMPR1A EP300 FOXE1 ENG SMAD7 AXIN2 CHEK2 MLH1 RPS20 BRCA1 RPS19 PRKAR1A APC GPR35 MLH1 AKT1 POLE SMAD4 KIT TP53 TRIP13 COL14A1 MDM2 SMAD4 POLE BRCA2 AKT1 MSH6 HABP2 NRAS MUTYH BUB1B DOCK8 TGFBR2 STK11 AXIN2 EPCAM BUB3 DCC AXIN2 TCF4 KLLN MSH2 APC TP53 SEC23B PTEN TGFBR2 SEMA4A POLD1 PIK3CA PDGFRA MINPP1 APC SH3KBP1 BMPR1A TP53 BUB1 AAGAB SMAD4 BMPR1A MST1 MLH3 MSH2 PALB2 FLCN SDHA PMS2 SDHB BUB1B MSH2 MLH1 CEP57 MLH3 TP53 PTPRJ PMS1 APC CDKN2A APC