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Ultrasensitive Mutation Detection in Bile Duct and Pancreatic Juice Specimens

Yana Cavanagh, Venkata Arun Timmaraju, Sydney Finkelstein, Sara Jackson, Reality Price, Christina M Narick, Matthew A Grossman.
Poster presented online; ACG 2020, ePoster.

A next-generation sequencing (NGS) approach capable of detecting very low gene variant levels (0.05%) was used to examine the presence of coexisting oncogene and TSG mutations in pancreaticobiliary duct specimens. Pancreaticobiliary cancer occurs via a stepwise process of serial mutation acquisition over time with key drivers including oncogene and tumor suppressor gene (TSG) mutations.

The high analytical sensitivity for gene mutations of the NGS-based assay enabled detection of low levels of coexisting mutational change in malignant pancreaticobiliary specimens. KRAS and TP53 were the most common mutations detected in malignant specimens and were often found coexisting with other mutations detected at low variant levels in bile duct and pancreatic juice specimens.

A highly analytically sensitive assay that can detect mutations in bile duct and pancreatic juice specimens may enable earlier detection of pancreaticobiliary cancers.

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