gastroenterologists-2017-keynote

Volume 7, Issue 7 (Suppl)

J Gastrointest Dig Syst

ISSN: 2161-069X JGDS, an open access journal

Gastroenterologists 2017

December 14-15, 2017

Page 13

Notes:

conference

series

.com

December 14-15, 2017 Dubai, UAE

World

Gastroenterologists Summit

Targeted cancer gene sequencing identifies potential causative novel candidate mutations in colon

carcinogenesis

olorectal cancer is the second cause of death in the world and genomic alteration plays an important role in this disease.

Much of the underlying genetic cancer driver mutations in sporadic colorectal cancer (CRC) have not been characterized

by race. Here, we report the identification of distinct novel variants from CRC patients in mismatch repair (MMR) genes

MHS3

and

MSH6

and

APC

. We developed a panel of 20 frequently altered colon cancer genes for targeted sequencing in

138 colon tissues using next generation sequencing to examine 98.8% of the targeted exons and splice junctions at a depth of

sequencing that allowed for high confidence variant calling. After alignment and variant calling, we annotated the variants

with information from the 1000 Genomes Project, COSMIC, Polyphen2 and PFAM domain and transcription factor motifs.

Excluding synonymous SNVs, 212 deleterious variants in adenoma, 760 in advanced adenoma and 2624 variants in tumors

were detected. Novel variants (1591 and 1363) were found in MMR genes (

MSH6

and

MSH3

) and

APC

gene, respectively.

These findings further highlight the relevance of

APC

gene in CRC onset but also the potential underestimation of the MSI-H

in sporadic CRC as many of the novel mutations in MMR genes detected here were of a deleterious nature with a therapeutic

interest.

Biography

Hassan Ashktorab has completed his PhD from Utah University and Postdoctoral studies from Indian University and University of Florida, School of Medicine. He

is the Director of Microarray lab and a Member of Gastro-interstitial Research group. He has published more than 100 papers in reputed journals and has been

serving as an Editorial Board Member of many journals including

DDS, GUT, PlosOne

and others.

hashktorab@Howard.edu

Hassan Ashktorab

Howard University, USA

Hassan Ashktorab, J Gastrointest Dig Syst 2017, 7:7 (Suppl)

DOI: 10.4172/2161-069X-C1-060