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Volume 7, Issue 4(Suppl) J Gastrointest Dig Syst, an open access journal
ISSN: 2161-069X Gastro Congress 2017
September 11-12, 2017
Page 20
conferenceseries.com
September 11-12, 2017 | Paris, France
12th Euro-Global Gastroenterology Conference
Hassan Ashktorab, J Gastrointest Dig Syst 2017, 7:4(Suppl)
DOI: 10.4172/2161-069X-C1-051
How can clinician be precise in era of precision medicine? Case of colon cancer
C 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/varaints 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 MSH2, 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 fromthe 1000Genomes Project, Catalogue of SomaticMutations inCancer (COSMIC),
Polymorphism Phenotyping v2 (Polyphen2) and PFAM domain and transcription factor motifs. Excluding synonymous SNVs,
212 deleterious variants in adenoma, 760 in advanced adenoma, and 2624 variants in tumours 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 so called “uncertain significance” in MMR genes detected here were of a deleterious nature with a therapeutic
interest.
Biography
Ashktorab has completed his PhD from Utah University and Postdoctoral studies from Indina University and University of Florida, School of Medicine. He is the director
of Microarray lab, a member of Gastrointestical Research group. He has published more than 100 papers in reputed journals and has been serving as an editorial board
member of many Journal including DDS, GUT, PlosOne and others.
Hassan Ashktorab
Howard Univeristy Cancer Center, USA