SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02596113

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

╬Łew 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 71
FOXE1 PMS1 CDKN2A KRAS MST1 TGFBR2 STK11 MSH6 TCF4 BMPR1A PMS2 KLLN MLH3 DLC1 NRAS BRCA1 BRCA2 PDGFRA DOCK8 PIK3CA GPR35 POLD1 NTHL1 POLE SRC BUB1 SH3KBP1 BUB1B CHEK2 APC MLH1 PRKAR1A FLCN COL14A1 AKT1 RPS19 RPS20 HABP2 MSH2 FGFR3 MSH3 KEAP1 GREM1 MINPP1 SEMA4A CTNNB1 DCC BUB3 PTEN MDM2 CEP57 ENG AAGAB TRIP13 KIT EPCAM DICER1 RNF43 PALLD EP300 PALB2 SEC23B MUTYH SDHA TP53 SDHB SDHC SDHD AXIN2 SMAD4 FAN1