Please note that this was recorded in 2017. All AMPEDTM content is reviewed and approved annually by the Training & Education Committee as relevant and accurate, but new data may now be available and new studies may have since been published.
AMP Education is constantly updating these educational offerings, so keep checking back at educate.amp.org for new content, content updates, and information on cutting-edge molecular pathology research and applications.
Description:
The first presentation will discuss the work done in the lab of Dr. Iafrate that focuses on bringing new genetic technologies to cancer diagnostics and the application of these in clinical molecular diagnostic testing. The work has led to the development of a novel next generation sequencing technique termed "Anchored Multiplex PCR (AMP)" that is especially powerful at the detection of gene fusion events from clinical specimens. We have shown that AMP is as sensitive as FISH in diagnosing ALK, ROS1 and RET fusions in lung cancer, and does not require knowing both fusion partners. In addition, AMP can be used for genomic DNA target enrichment and is scalable and cost effective. Current work focuses on ultrasensitive detection of mutations in blood and urine. Genomic sequencing technologies have enabled increasing use of cancer genetic testing for both germline cancer predisposition and somatic mutation profiling in tumors.
The second presentation will review the interplay between germline and somatic findings in cancer genetic testing, with particular emphasis on new areas of clinical utility. These new areas include germline testing of cancer predisposition genes to guide cancer treatment decisions, tumor DNA sequencing to rule out Lynch syndrome, and tumor DNA sequencing used to inform germline variant classification.
Solid Tumor Genotyping: Technical and Clinical Validation with a Focus on Fusions
A. John Iafrate, MD, PhD, Massachusetts General Hospital, Boston, MA, USA
Intersection of Germline and Somatic Cancer Variants and New Areas of Clinical Utility
Colin C. Pritchard, MD, PhD, University of Washington, Seattle, WA, USA
Learning Objectives:
- Describe sequencing strategies to identify gene fusions in cancer.
- Discuss key elements required for the validation of gene fusions detected.
- Discuss the clinical utility of NGS-based detection of gene fusions in clinical practice.
- Review 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.
Duration: 1.50 hr
Recording Date: November 17, 2017
Note: Join the AMP Family for discounted access to the most current educational resources!
All sales are final. No refunds will be issued.
No digital files may be reproduced or transmitted in any form, by any means, electronic or mechanical. By purchasing a product, you agree to not share any of the course materials, including videos, downloadable slide presentations, outlines, manuscripts, etc. without explicit and written permission from AMP.
