2021 Scientific Program


Sunday, August 1, 2021


The CGC 2021 Virtual Annual Meeting will be presented in the eastern daylight times (EDT) shown below.

After each presentation, recordings will be available on the virtual meeting platform for those registrants in different time zones, and will be posted later on the CGC website for on demand access for CGC members.

To download the scientific program, please click here.


Opening of the 12th Annual Cancer Genomics Consortium


11:30 AM

Patricia M. Miron, UMass Memorial Medical Center

11:35 AM - 12:35 PM

Keynote Presentation

Deciphering oncohistone pathogenesis in cancer
Nada Jabado, McGill University

Introduction: Patricia M. Miron, UMass Memorial Medical Center

Speaker Q & A

12:35 - 1:20 PM

Diamond Vendor Showcase: Illumina
(No CME available)

DNA Methylation, CNV Analysis, and Case Studies
Andreas von Deimling, University Clinic Heidelberg and DKFZ

Eric Vail, Cedars-Sinai
David Solomon, University of California San Francisco

Speaker Q & A

1:20 - 1:25 PM

Break: Announcements

1:25 - 2:25 PM

Session 1: Brain Tumors - Molecular Landscape and Emerging Targets

Jaclyn Biegel,
Children's Hospital Los Angeles
Vera Paulson, University of Washington


Clinicopathologic analysis of gliomas harboring ROS1 gene arrangements
Xinyan Lu, Northwestern University Feinberg School of Medicine

TERT and MGMT RNA sequencing gene expression correlation with mutational/methylation promoter status in brain tumors
Cristiane Ida,
Mayo Clinic

Optical genome mapping reveals novel structural variants in pediatric high grade gliomas
Miriam Bornhorst, Children's National Hospital

Glioblastomas with MAPK pathway alterations show low grade histologic features and present novel therapeutic targets
David Meredith, 
Brigham and Women's Hospital

Session Q & A

2:25 - 2:50 PM

Platinum Vendor Showcase: Qiagen
(No CME available)

Homologous recombination repair (HRR) and deficiency (HRD): The role of DNA damage repair (DRR)
Vikas Gupta and Raed Samara, Qiagen

2:50 PM

Gold Vendor Showcase: BioDot
(No CME available)

BioDot CellWriter
Matt Sergent, BioDot

2:55 - 3:00 PM

Break: Announcements

Additional Information available online.
There is an additional registration fee to attend the workshops.

3:00 - 4:30 PM

CGC Workshop

Visualization and interpretation tools/resources for structural genomic variants
Deborah Ritter, Baylor College of Medicine

Debyani Chakravarty, Memorial Sloan Kettering Cancer Center
Jianjiong Gao, Memorial Sloan Kettering Cancer Center

Jason Saliba, Washington University in St. Louis
Ahmet Zehir, Memorial Sloan Kettering Cancer Center

4:30 - 4:40 PM

Break: Announcements

4:40 - 6:10 PM

CGC Workshop

Case-based discussion of updates in cytogenetic and molecular nomenclature, interpretation and reporting standards, and interpretation resources for cancer variants
Gordana Raca, Children's Hospital Los Angeles

Jean McGowan-Jordan, CHEO Genetics Diagnostic Laboratory/University of Ottawa
Beth Pitel, Mayo Clinic

Teresa Smolarek, Cincinnati Children’s Hospital Medical Center
Gordana Raca, Children’s Hospital Los Angeles
Svetlana Yatsenko, University of Pittsburgh Medical Center
Ravindra Kohle, Augusta University

6:15 - 7:15 PM                

Early Career/New Director Event


Monday, August 2, 2021


10:00 - 10:10 AM

Presidential Address
Yassmine Akkari, Legacy Health

10:10 - 11:10 AM

Session 2: New Strides in Technology

Fabiola Quintero-Rivero, University of California Irvine
Cinthya Zepeda, ARUP

Clinical laboratory validation of TCR-seq for detection of clonality
Jane HouldsworthIcahn School of Medicine at Mount Sinai

Emerging clinically-relevant applications of ultra-sensitive mutation detection
Lei WeiRoswell Park Comprehensive Cancer Center

Adoption of optical genome mapping in clinical cancer cytogenetic laboratory: A stepwise approach
Victoria StinnettThe Johns Hopkins University

Rapid clinical BRAF V600 mutation testing using Idylla Platform
Meenakshi Mehrotra, Icahn School of Medicine at Mount Sinai

Session Q & A

11:10 AM

Gold Vendor Showcase: FujiFilm Irvine Scientific
(No CME available)

Cell culture media specialists: Providing solutions for cytogenetics in clinical and research applications
Shaun Waters, FujiFilm Irvine Scientific

11:15 - 11:35 AM

Break: Announcements

11:35 AM - 12:35 PM

Keynote Presentation

Global views of cell lineage in metastasis and development
Jay Shendure, University of Washington

Introduction: Cinthya Zepeda, ARUP

Speaker Q & A

12:35 PM - 1:20 PM

Diamond Vendor Showcase: Bionano Genomics
(No CME available)

Ushering in a New Era for Cytogenomics Based on Optical Genome Mapping
Alka Chaubey, Bionano Genomics

Ravindra Kolhe, Augusta University
Adrian Lee, University of Pittsburgh Medical Center
Alan Lennon, Pathgroup

1:20 PM - 2:35 PM

Lunch Break / Exhibit Hall Open

2:35 PM - 3:20 PM

Invited Speaker

The next generation of cytogenetics and molecular genetics in leukemia diagnostics
Torsten Haferlach, Munich Leukemia Laboratory

Introduction: Rashmi Kanagal-Shamanna, MD Anderson

Speaker Q & A

3:20 PM

Gold Vendor Showcase: ADS Biotec
(No CME available)

Enabling Seamless Automation In Cytogenetics
John McCloskey, ADS Biotec

3:25 PM - 4:10 PM

Session 3: New Molecular Insights into Myeloid Hematologic Malignancies

Gordana Raca, Children's Hospital Los Angeles
Lisa Lansdon, Children's Mercy Hospital


ETV6-PDGFRA fusions detected by FISH in acute myeloid leukemia with translocation t(4;12)(q12;p13) are false-positive 
Sarah Mueller, Massachusetts General
Tied for First Place Trainee Abstract Award


SNP microarray analysis of over 7,500 myeloid patients: Implications, importance and suggestions for standard of care
Stuart Schwartz, Laboratory Corporation of America


Optical genome mapping for chromosomal structural variants analysis in hematological malignancies
Rashmi Kanagal-Shamanna, MD Anderson Cancer Center

Session Q & A

4:10 - 4:35 PM   

Platinum Vendor Showcase: SOPHiA Genetics
(No CME available) 

The SOPHiA DDMTM Platform: Deep dive on how we support solid tumor detection
Emily Paul, Mikhail Pertziger, and Marián Novak, SOPHiA Genetics

4:35 - 5:40 PM 

Exhibit Hall Open


5:40 - 6:25 PM

Session 4: Integrating Genomics into Constitutional Analysis

Patricia Miron, UMass Memorial Medical Center
Rebecca Smith, Genetics Associates, Inc.

Cancer cytogenomic array analysis reveals origin of ovarian teratoma and reproductive lessons learned from it
Lina Shao, University of Michigan


Next-generation cytogenetics: Proposal for a cost-effective approach for comprehensive testing of prenatal cases
Nikhil Sahajpal, Augusta University


Deletions resulting in Brachydactyly Mental Retardation Syndrome (BDMR): Multiple contributing regions in distal 2q37?
Aiko OtsuboIndiana University

Session Q & A

6:25 PM

Gold Vendor Showcase: Global Alliance for Genomics & Health (GA4GH)
(No CME available) 

Presenting the Global Alliance for Genomics & Health (GA4GH)

6:30 - 7:00 PM

Panel-Based Discussion: Navigating the evolution of cytogenetics

Yassmine Akkari, Legacy Health
Linda Baughn, Mayo Clinic
P. Alan Lennon, PathGroup
Karen Rabin, Texas Children's Cancer Center, Baylor College of Medicine

Q & A with Speakers


Tuesday, August 3, 2021


10:00 - 11:00 AM

Session 5: Data Base Curation and Mining

Kilannin Krysiak, Washington University School of Medicine
Beth Pitel, Mayo Clinic


Standard procedure for the curation and maintenance of cancer-specific gene lists
Beth A. Pitel, Mayo Clinic

First Place Technologist Abstract Award


Enhancement of pediatric cancer curation and representation through expert-guided data mining and ontology refinement
Jason Saliba, Washington University School of Medicine

Multi-consortia initiative to standardize the representation and curation of oncogenic fusions
Alex WagnerNationwide Children's Hospital

Progenetix - An open reference resource for copy number variation data in cancer
Qingyao Huang, Universität Zürich


Session Q & A


11:00 AM

Gold Vendor Showcase: The Jackson Laboratory
(No CME available)

JAX Clinical Knowledgebase (CKB)
Cara Statz, The Jackson Laboratory

11:05 - 11:50 AM

Invited Speaker

AI applications to drive precision oncology clinical trials
Subha Madhavan, AstraZeneca

Introduction: Obi Griffith, Washington University

Speaker Q & A

11:50 AM - 12:35 PM

Diamond Vendor Showcase: Agilent Technologies
(No CME available)

One workflow - endless options: NGS workflow solutions
Brigette Brown-Kipphut, Agilent Technologies
K.C. Varva, Agilent Technologies

12:40 - 1:40 PM

Roundtable Breakout SessionsTopic list available online
Please make your selection during registration – only 16 spaces are available in each discussion topic

1:40 - 2:15 PM

Lunch Break / Exhibit Hall Open

2:15 - 3:15 PM

Keynote Presentation

Towards population genomic screening for cancer susceptibility
Leslie G. Biesecker, National Human Genome Research Institute

Introduction: P. Alan Lennon, PathGroup

Speaker Q & A

3:15 PM

Gold Vendor Showcase: Geneoscopy
(No CME available)

Presenting Geneoscopy
Erica Barnell, Geneoscopy

3:20 - 4:05 PM

Session 6: Genetic Spectrum of Vascular Anomalies and Overgrowth Syndromes

Min Fang, Fred Hutchinson Cancer Research Center
Alaa Koleilat, Mayo Clinic

Genomic structural variations in lymphatic anomalies
Thuy Phung, University of South Alabama

Diagnostic utility and lessons learned from deep sequencing vascular malformations
Candace Myers, Seattle Children's Hospital

Co-existence of two activating variants in somatic overgrowth & vascular anomalies: 7 years' findings at a single center
Yang Cao, Washington University School of Medicine

Session Q & A

4:05 - 4:30 PM

Platinum Vendor Showcase: Natera
(No CME available)

Informed by the tumor: The power of a personalized ctDNA Assay for Treatment Monitoring in HER2
Angel Rodriguez and John Simmons, Natera

4:30 - 5:30 PM

Exhibit Hall Open

5:30 - 6:15 PM

Session 7: Advances in the Analysis of Hematologic Malignancies

Lina Shao, University of Michigan
Marilena Melas, Nationwide Children's Hospital

Characterization of atypical iAMP21 observed in B-Lymphoblastic Leukemia (B-ALL): a retrospective study from Mayo Clinic
Alaa Koleilat, Mayo Clinic
Tied for First Place Trainee Abstract Award

Complementarity of RNA sequencing and optical genome mapping in detection of rare fusions in pediatric B-ALL
Gordana Raca, Children's Hospital Los Angeles

Archer system copy number alteration caller: User experience
Celeste Eno, Cedars-Sinai Medical Center

Session Q & A

6:15 - 6:35 PM

Platinum Vendor Showcase: Roche
(No CME available)

HyperPETE: A Novel Primer Extension Target Enrichment Solution for Rapid and Reliable Variant Detection Results
Brian Godwin, Roche Sequencing Solutions

6:40 - 7:10 PM

From oncology to pathology and genomics and back again: A 360-degree perspective on a unique B-cell leukemia
Adrian Dubuc, Jacqueline Garcia, and Gabriel Griffin, Brigham and Women's Hospital

7:15 - 8:30 PM

After Hours Social

Wednesday, August 4, 2021

10:00 - 11:00 AM

Session 8: Hereditary Cancer/Cancer Predisposition

Xinjie Xu, Mayo Clinic
Angela Lager, University of Chicago

Large scale analysis in Von Hippel-Lindau disease
Kirsten Farncombe, University Health Network

Co-occurrence of rosette-forming glioneuronal tumors with Noonan syndrome
Marilena Melas, Nationwide Children's Hospital

10-year retrospective analysis of BRCA germline mutation in multiethnic gynecologic patients from a U.S. cancer center
Christina Wei, City of Hope National Medical Center

Identification of TP53 germline variants in pediatric patients undergoing tumor testing
Minjie Luo, The Children's Hospital of Philadelphia

Session Q & A


11:00 AM

Gold Vendor Showcase: Oxford Nanopore

11:05 - 11:35 AM

Break: Announcements

11:35 AM - 12:35 PM

Keynote Presentation

Proteogenomics as a driver for discovery of biomarkers and therapeutic targets in cancer
Kojo S. J. Elenitoba-Johnson, Penn Medicine’s Center for Personalized Diagnostics

Introduction: Yassmine Akkari, Legacy Health

Speaker Q & A

12:35 - 1:20 PM    

Diamond Vendor Showcase: Thermo Fisher Scientific
(No CME available)

Biomarker discovery through tumor profiling
Mary Napier, Thermo Fisher Scientific

Improved risk stratification for B-ALL patients using chromosome genomic array testing and targeted RNA sequencing
Min Fang, Fred Hutchinson Cancer Center Research Center and University of Washington, Seattle

Speaker Q & A

1:20 - 2:35 PM                                    

Lunch Break / Exhibit Hall Open

2:35 PM

Gold Vendor Showcase: BioDiscovery
(No CME available)

NxClinical's Approach to HRD Analysis

2:40 - 3:30 PM

Session 9: Updates from the CGC

Yassmine Akkari, Legacy Health

Launching a CGC initiative to support trainees and early career members: Survey results and analysis
Kilannin Krysiak, Washington University School of Medicine

Perspectives in genetic counseling
Lindsey Byrne, The Ohio State University
Sheila Solomon, Guardant Health

The Compendium of Cancer Genome Aberrations (CCGA): Becoming a global hub for clinical interpretation 
Jennelle HodgeIndiana University

CGC PACC report: New initiatives and future directions
Rashmi Kanagal-Shamanna, MD Anderson Cancer Center

3:30 - 3:55 PM

Platinum Vendor Showcase: Oxford Gene Technology
(No CME available)

Transitioning CLL FISH analysis into the molecular biomarker era
Tracy Tucker, BC Cancer

3:55 - 4:25 PM

Session 10: Bioinformatics: Applications and Developments

Obi Griffith, Washington University School of Medicine


A cost-effective bioinformatics triage strategy for testing PMS2 using short-read next generation sequencing
Wei Shen, Mayo Clinic


Computer-aided cytogenomic classification of renal cell carcinoma
Soheil Shams, BioDiscovery, Inc.

Session Q & A


4:25 PM

Gold Vendor Showcase: Twist Bioscience
(No CME available)

Writing the future of cancer research
Melina Mathur, Twist Bioscience

4:30 - 5:30 PM

Exhibit Hall Open

5:30 - 6:30 PM          

Session 11: Unraveling Solid Tumors with Genomic Technologies

Teresa Smolarek, Cincinnati Children's Hospital Medical Center
Niroshi Senaratne, University of California Los Angeles

Clinical utility and feasibility of adopting optical genome mapping for chromosomal characterization of solid tumors.
Nikhil Sahajpal, Augusta University

Second Place Technologist Abstract Award

Tumor cellularity estimation in a targeted NGS panel of tumor-only specimens expands analytical utility
Stephanie Siegmund, Brigham & Women's Hospital

A molecular and clinicopathologic analysis of primary intracranial sarcomas
Zahra Aldawood, Harvard School of Dental Medicine

Atypical FISH patterns clarified by RNAseq in solid tumor specimens
Beth Pitel, Mayo Clinic

Session Q & A

6:30 - 7:00 PM

CGC 2021 Business Meeting 

Yassmine Akkari, CGC President, Legacy Health
Xinjie Xu, CGC Treasurer, Mayo Clinic
Patricia M. Miron, CGC President-Elect, 
UMass Memorial Medical Center

Meeting Q & A


Closing Remarks