Emerging NGS Applications at the Intersection Germline and Somatic Cancer Genetics


Next generation sequencing (NGS) has enabled increasing use of cancer genetic testing for both germline cancer predisposition and somatic mutation profiling in tumors. This presentation will cover emerging clinical applications of NGS in oncology at the intersection between germline and somatic findings. These emerging areas include paired tumor and germline testing of BRCA1, BRCA2, and mismatch repair genes to guide cancer treatment decisions, microsatellite instability testing by NGS, and tumor sequencing to assist in a germline cancer predisposition workup.

Originally published on October 9, 2019

Lecture Presenter

Colin C. Pritchard MD, PhD

Colin C. Pritchard MD, PhD

Associate Professor, Laboratory Medicine
University of Washington School of Medicine
Associate Director
Clinical Molecular Genetics Laboratory, UW Medicine

Dr. Pritchard is an Associate Professor and Head of the Genetics Division of Laboratory Medicine, as well as the Co-Director of the Genetics and Solid Tumors Laboratory at the University of Washington Medical Center that services the Seattle Cancer Care Alliance (SCCA). Dr. Pritchard undertook his graduate and medical training at the University of Washington. The Pritchard laboratory focuses on oncology molecular diagnostics, particularly the source and utility of cell-free nucleic acid biomarkers in blood, and the development of innovative molecular diagnostics for the identification of DNA repair gene mutations that can guide therapeutic decision-making. His clinical work focuses on applications of next-generation sequencing gene panels for cancer risk assessment and precision treatment. He has led the development and implementation of the ColoSeq™ Lynch and Polyposis Syndrome Panel and UW-OncoPlex™ Cancer Gene Panel in current clinical use for cancer patients and their families.


After this presentation, participants will be able to:

  • Recognize when and how testing for inherited mutations in BRCA1, BRCA2, and other homologous recombination DNA repair genes is used to guide cancer treatment.
  • Describe the clinical scenario and utility of tumor sequencing of mismatch DNA repair genes as part of a Lynch syndrome workup.
  • List at least two types of tumor findings that increase the probability that a germline variant in a cancer predisposition gene is pathogenic.

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories