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Enhancing Patient Care: A Digital Approach Improves Universal Breast Cancer Risk Stratification in Imaging Centers

Oncology

Date:
Wednesday, Dec 11, 2024 12:00pm – 2:00pm

Conference:
SABCS 2024

Authors:
Jenna Cooke, Hartford Healthcare; Heather Fecteau, Ambry Genetics

Abstract 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
Paired DNA/RNA genetic testing to uncover a cryptic PTEN pathogenic variant (PV) associated with diffuse colonic ganglioneuromatosis

Oncology

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

Conference:
CGA-ICG 2024

Authors:
Marcy E. Richardson, Dong Kim, Michelle McSweeny, Demitrios Dedousis, Yana Chertock, Michael J. Hall

Abstract Poster
Don’t MISS the mark: Rare missense variants in APC associated with polyposis phenotypes

Oncology

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

Conference:
CGA-ICG 2024

Authors:
Marcy Richardson, Jamie D. Weyandt, Colin Young, PhD, Matthew Varga, Christen Csuy, June Mikkelson, Elizabeth Popkowski, Carolyn Horton

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
From last resort to first choice: The ascension of exome sequencing in isolated NDD diagnostics

Clinical Genomics

Session:
#231

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

Conference:
CNS 2024

Authors:
Catherine Schultz, Cassidy Carraway, Margo Gallegos, Brooklynn Gasser, Hannah Rea, Dean Hoffer, Victoria Suslovitch, Meghan C. Towne

Abstract Poster
Impact of gene-disease validity on variant of unknown significance rates in hereditary cancer panels

Oncology

Session:
#1073

Date:
Friday, Nov 8, 2024 2:30pm – 4:30pm

Conference:
ASHG 2024

Authors:
Jessica Grzybowski, Devon Lamb Thrush, Carrie Horton, Elyse Ryan, Daniel Kostecki

Abstract Poster
Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

Oncology

Session:
#6077

Date:
Thursday, Nov 7, 2024 2:30pm – 4:30pm

Conference:
ASHG 2024

Authors:
Fergus Couch, Tina Pesaran, MA, MS, CGC, Rachid Karam, PhD, Marcy E. Richardson, Huaizhi Huang, Siddhartha Yadav, Susan M. Domchek, Alvaro N.A. Monteiro, Nicholas Boddicker, Wenan Chen, Chungling Hu

Collaborators:

Mayo Clinic
Moffitt Cancer Center

Abstract
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
Integrating emerging data into genomic testing: Outcomes from an evidence-based reanalysis initiative

Clinical Genomics

Session:
#3058

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

Conference:
ASHG 2024

Authors:
Kelly Radtke, Kelly Hagman, MS, CGC, LGC, Bess Wayburn, Meghan C. Towne, Carolyn Horton, Sheila Saliganan, Kendra Webb, Brooklynn Gasser, Jennifer Huang

Poster Abstract

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Enhancing Patient Care: A Digital Approach Improves Universal Breast Cancer Risk Stratification in Imaging Centers

MSH2 variant causing atypical CMMRD and atypical LS

Paired DNA/RNA genetic testing to uncover a cryptic PTEN pathogenic variant (PV) associated with diffuse colonic ganglioneuromatosis

Don’t MISS the mark: Rare missense variants in APC associated with polyposis phenotypes

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

From last resort to first choice: The ascension of exome sequencing in isolated NDD diagnostics

Impact of gene-disease validity on variant of unknown significance rates in hereditary cancer panels

Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

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

Integrating emerging data into genomic testing: Outcomes from an evidence-based reanalysis initiative

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