July 24, 2018
Sponsored by

Identifying Inherited Risk Factors of Pancreatic Cancer Using Targeted Sequencing in a Large Cohort

Genome Webinar

Anna and Zbigniew Scheller Professor of Medicine; Chair, Division of Experimental Pathology and Laboratory Medicine; Department of Laboratory Medicine and Pathology, Mayo Clinic


In this webinar, Dr. Fergus Couch from the Mayo Clinic presents data from a large study that used a targeted sequencing panel to determine pancreatic cancer risk associated with inherited mutations in several cancer predisposition genes.

Inherited germline mutations have been suggested to put individuals with prior family history at risk of developing pancreatic cancer. However, the risk of developing pancreatic cancer due to these mutations without a family history of the disease remains largely unknown. To address this, Dr. Couch and colleagues sequenced the coding regions and consensus splice sites of 21 cancer predisposition genes using an optimized custom DNA panel in more than 3,000 pancreatic cancer patients. Inherited mutations in six cancer predisposition genes were identified to be significantly associated with pancreatic cancer.

Dr. Couch outlines challenges of current targeted sequencing approaches for such large studies, detail the methodologies used to analyze this cohort, and present results of this study.

Sponsored by