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 or CEUs available)

1:20 - 1:25 PM

Break: Announcements

1:25 - 2:25 PM

Session 1: Brain Tumors - Molecular Landscape and Emerging Targets

Moderator: TBD


Clinicopathologic analysis of gliomas harboring ROS1 gene arrangements
Linda Cooley, University of Missouri Kansas City Medical School

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 or CEUs available)

2:50 - 3:00 PM

Break: Announcements

There is an additional registration fee to attend the workshops.

3:00 - 4:30 PM

CGC Workshop A

Visualization and interpretation tools/resources for structural genomic variants

4:30 - 4:40 PM

Break: Announcements

4:40 - 6:10 PM

CGC Workshop B

Case-based discussion of updates in cytogenetic and molecular nomenclature, interpretation and reporting standards, and interpretation resources for cancer variants

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

Moderator: TBD

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 - 11:30 AM

Break: Announcements

11:30 AM - 12:30 PM

Keynote Presentation

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

Introduction: Cinthya Zepeda, ARUP

Speaker Q & A

12:30 PM - 1:15 PM

Diamond Vendor Showcase: Bionano Genomics
(No CME or CEUs available)

1:15 PM - 2:30 PM

Lunch Break / Exhibit Hall Open

2:30 PM - 3:15 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
3:15 PM - 4:00 PM

Session 3: New Molecular Insights into Myeloid Hematologic Malignancies

Moderator: TBD


ETV6-PDGFRA fusions detected by FISH in acute myeloid leukemia with translocation t(4;12)(q12;p13) are false-positive 
Sarah Mueller, Massachusetts General Hospital


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

4:00 - 4:25 PM   

Platinum Vendor Showcase: SOPHiA Genetics
(No CME or CEUs available) 

4:25 - 5:30 PM 

Exhibit Hall Open


5:30 - 6:15 PM

Session 4: Integrating Genomics into Constitutional Analysis

Moderator: TBD

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

6:15 - 6:45 PM

Panel-Based Discussion: Navigating the evolution of cytogenetics

Q & A Session with Speakers


Tuesday, August 3, 2021


10:00 - 11:00 AM

Session 5: Data Base Curation and Mining

Moderator: TBD


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


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
Michael Baudis, Universität Zürich


Session Q & A


11:00 - 11:45 AM

Invited Speaker

AI Applications to Drive Precision Oncology Clinical Trials
Subha Madhavan, Georgetown University

Introduction: Obi Griffith, Washington University

Speaker Q & A

11:45 AM - 12:30 PM

Diamond Vendor Showcase: Agilent Technologies
(No CME or CEUs available)

12:30 - 1:15 PM

Lunch Break / Exhibit Hall Open

1:15 - 2:10 PM

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

2:15 - 3:15 PM

Keynote Presentation

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

Introduction: TBD

Speaker Q & A

3:15 - 4:00 PM

Session 6: Genetic Spectrum of Vascular Anomalies and Overgrowth Syndromes

Moderator: TBD

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

4:00 - 4:25 PM

Platinum Vendor Showcase: Natera
(No CME or CEUs available)

4:25 - 5:30 PM

Exhibit Hall Open

5:30 - 6:15 PM

Session 7: Advances in the Analysis of Hematologic Malignancies

Moderator: TBD

Characterization of atypical iAMP21 observed in B-Lymphoblastic Leukemia (B-ALL): a retrospective study from Mayo Clinic
Alaa Koleilat, Mayo Clinic

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 - 6:45 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

6:45 - 8:00 PM

After Hours Social

Wednesday, August 4, 2021

10:00 - 11:00 AM

Session 8: Hereditary Cancer/Cancer Predisposition

Moderator: TBD

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 - 11:30 AM

Break: Announcements

11:30 AM - 12:30 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

12:30 - 1:15 PM    

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

1:15 - 2:30 PM                                    

Lunch Break / Exhibit Hall Open

2:30 - 3:20 PM

Session 9: Updates from the CGC

Moderator: 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
Speaker TBD

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

3:20 - 3:45 PM

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

3:45 - 4:15 PM

Session 10: Bioinformatics: Applications and Developments

Moderator: TBD


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


4:15 - 5:15 PM

Exhibit Hall Open

5:15 - 6:15 PM          

Session 11: Unravelling Solid Tumors with Genomic Technologies

Moderator: TBD

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

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

6:15 - 6:45 PM

CGC 2021 Business Meeting and Closing Remarks