General Archives

Poster
BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes

Clinician

General

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Matthew P. Johnson, Ashley P.L. Marsh, Laura I. Hudish, Marcy E. Richardson, Steven M. Harrison

Abstract Poster
Poster
The impact of discrepant payor policies from one lab benefits manager on patient access to genetic testing

Clinician

General

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Greg Nogle, Timothy Komala, Amal Yussuf, Robert Pilarski, Marissa Russell, Lily Hoang

Abstract Poster
Presentation
Impact of RNA sequencing on variant classification: Experience at a high-volume cancer genetics center

General

Speakers:
Sydney Rudowski, Alexis Gallant, Ashley Reeves, Ana Stupar, Sarah Campian, Dana Zakalik

Conference:
CGA-ICG 2024

Saturday, Nov 16, 2024 1:45pm – 3:15pm

Abstract
Poster
How many diseases can one gene cause? Why mechanism matters for gene curation, variant classification, and patient counseling

General

Session:
#232

Date:
Tuesday, Nov 12, 2024 12:30pm – 1:45pm

Conference:
CNS 2024

Authors:
Bess Wayburn, Mari Rossi, Wendy Alcaraz, Jennifer Herrera-Mullar, Kelly Radtke, Jennifer M. Huang, Meghan C. Towne, Carolyn Horton, Devon L. Thrush

Abstract Poster
Poster
Specification of frequency criteria for secondary findings genes to improve classification concordance

General

Session:
#3069

Date:
Wednesday, Nov 6, 2024 2:30pm – 4:30pm

Conference:
ASHG 2024

Authors:
Jennifer J. Johnston, Kristy Lee, Deborah I. Ritter, Steven M. Harrison, Leslie G. Biesecker

Collaborators:

Baylor College of Medicine
NHGRI
Texas Children's Hospital
University of North Carolina at Chapel Hill

Abstract Poster
Poster
MSH2 variant causing atypical CMMRD and atypical LS

General

Date:
Thursday, Nov 14, 2024 6:00pm – 7:00pm

Conference:
CGA-ICG 2024

Authors:
Melyssa Aronson, Angela L. Jacobson, Brian H. Shirts, Andree MacMillan, Kathleen Buckley, Ashley P.L. Marsh, Lauren Currie, Allison Rusnak, Stephanie Wagler, Uri Tabori

Collaborators:

Children's Hospital of Eastern Ontario Research Institute
GeneDx
The Hospital for Sick Children, The University of Toronto
Presentation
When clinical meets molecular: Why, when and how do CTNNA1 germline variants cause hereditary diffuse gastric cancer development

General

International

Session:
#4

Speakers:
Silvana Lobo, Alexandre Dias, Marta Ferreira, Jennifer Herrera-Mullar, Ana Maria Pedro, Irene Gullo, Magali Svrcek, Robert Hu00fcneburg, Leticia Moreira, Sigrid Tinschert, Lise Boussemart, Jeremy L. Davis, Birthe Zu00e4ncker, Liselotte P. Van Hest, Kasmintan Schrader, Manuela Baptista, Jolanda M. Van Dieren, Judith Balmau00f1a, Viviana Strong, Conxi Lazaro, Bryson Katona, Chrystelle Colas, Florence Coulet, Rachid Karam, Paulo S. Pereira, Patrick Benusiglio, Carla Oliveira

Conference:
ASHG 2024

Friday, Nov 8, 2024 1:30pm – 1:45pm

Collaborators:

Amsterdam University Medical Center
APHP, GH Pitié Salpêtrière, Department of Genetics, Unit of Development Genomics
Catalan Institute of Oncology
Institut Curie
Memorial Sloan Kettering Cancer Center
National Cancer Institute
Perelman School of Medicine at the University of Pennsylvania
São Paulo University
Sorbonne Universités, Paris, France
The Netherlands Cancer Institute – Antoni van Leeuwenhoek Hospital
University Hospital Bonn
University Hospital Carl Gustav Carus Dresden
University of British Columbia
University of Porto
Vall d'Hebron Institute of Oncology

Abstract
Presentation
Expanding the reach of paired DNA and RNA sequencing: Results from 450,000 consecutive individuals from a hereditary cancer cohort

General

Session:
#6

Speakers:
Carolyn Horton, Lily Hoang, Jessica Grzybowski, Heather Zimmermann, Jesus Ramirez Castano, Sami Belhadj, Rachid Karam

Conference:
ASHG 2024

Friday, Nov 8, 2024 2:00pm – 2:15pm

Abstract
Poster
Current work of the APC subcommittee of the InSiGHT – ClinGen Hereditary CRC / Polyposis Variant Curation Expert Panel: Interpretation of selected APC variants based on the APC-specific ACMG/AMP variant classification criteria

General

Oncology

Date:
Friday, Jun 21, 2024 10:05am – 11:05am

Conference:
InSiGHT 2024

Authors:
Marcy E. Richardson, Tina Pesaran, MA, MS, CGC, Isabel Spier, Xiaoyu Yin, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, Thomas v O Hansen, Marta Pineda, Julie Boyle, Pilar Mur, Khalid Mahmood, Emily Nadeau, Margareta Nordling, Alexandra Martins, Ester Borras, Carli Tops, Karl Krahn, Victoria Beshay, Deborah Ritter, Maurizio Genuardi, Gabriel Capellá, Sean V. Tavtigian, Andrew Latchford, Ian M Frayling, Sharon E. Plon, Finlay A Macrae, Marc S Greenblatt, Stefan Aretz

Collaborators:

Baylor College of Medicine
Cardiff University
Catalan Institute of Oncology
Copenhagen University Hospital
GeneDx
Greenwood Genetic Center
Haukeland University Hospital
Imperial College London
Invitae Corporation
Leiden University Medical Center
Linköping University
Medical Genetics Center Munich
Peter MacCallum Cancer Centre and Royal Melbourne Hospital
Royal Melbourne Hospital
Texas Children's Hospital
Universita Cattolica del Sacro Cuore
University Hospital Bonn
University of Melbourne
University of Utah
University of Washington

Abstract Poster
Presentation
Variant classification and clinical actionability

General

Speakers:
Rachid Karam, Maegan Roberts

Conference:
IGCLC 2024

Friday, Jun 14, 2024 10:15am – 10:30am

Collaborators:

Ohio State University (OSU)

… …

General

BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes

The impact of discrepant payor policies from one lab benefits manager on patient access to genetic testing

Impact of RNA sequencing on variant classification: Experience at a high-volume cancer genetics center

How many diseases can one gene cause? Why mechanism matters for gene curation, variant classification, and patient counseling

Specification of frequency criteria for secondary findings genes to improve classification concordance

MSH2 variant causing atypical CMMRD and atypical LS

When clinical meets molecular: Why, when and how do CTNNA1 germline variants cause hereditary diffuse gastric cancer development

Expanding the reach of paired DNA and RNA sequencing: Results from 450,000 consecutive individuals from a hereditary cancer cohort

Current work of the APC subcommittee of the InSiGHT – ClinGen Hereditary CRC / Polyposis Variant Curation Expert Panel: Interpretation of selected APC variants based on the APC-specific ACMG/AMP variant classification criteria

Variant classification and clinical actionability

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