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Diagnostic exome sequencing identifies alterations in the newly characterized gene, COQ4, expanding the phenotypic spectrum

Clinical Genomics

Date:
Tuesday, Oct 6, 2015 12:00am – 12:00pm

Conference:
ASHG 2015

Authors:
Marilyn Tsang, Wendy Alcaraz, Deepali N. Shinde, Dima El-Khechen, Bhambhani Vikas, Nancy J. Mendelsohn, Beau Crabb

Collaborators:

Children's Hospital and Clinics of Minnesota

Poster Abstract
Diagnostic Exome Sequencing (DES) provides a diagnosis for 23% of adult patients

Clinical Genomics

Date:
Tuesday, Oct 6, 2015 12:00am – 12:00pm

Conference:
ASHG 2015

Authors:
K. D. Farwell Hagman, S. Li, L. Shahmirzadi, D. El-Khechen, Z. Powis, C. Gund, K. Burk, S. Tang

Abstract Poster
Variant of Unknown Significance rates vary by ethnicity and genes analyzed

General

Date:
Tuesday, Oct 6, 2015 12:00am – 12:00pm

Conference:
ASHG 2015

Authors:
L. Panos, J. Thompson, V. Speare, J. Dolinsky, K. Panchani, H. LaDuca

Poster Abstract
Single gene (SGT) vs. Multi-gene panel testing (MGPT) for TP53 germline mutations in Li Fraumeni syndrome (LFS)

General

Date:
Tuesday, Oct 6, 2015 12:00am – 12:00pm

Conference:
ASHG 2015

Authors:
Huma Rana, Holly Laduca, Emily Dalton, Virginia Speare, Jill Dolinsky, Elizabeth Chao, Judy E. Garber, Rebecca Gelman, Jennifer Thompson, Rachel McFarland

Collaborators:

Dana Farber Cancer Institute
University of California, Irvine

Abstract Poster
CASK mutation identified by whole exome sequencing in a patient that expands the clinical spectrum for MICPCH syndrome

Clinical Genomics

Date:
Tuesday, Oct 6, 2015 12:00am – 12:00pm

Conference:
ASHG 2015

Authors:
J Zhao, S. Tang, D Schuessler, N Dosa, RR Lebel

Collaborators:

SUNY Upstate Medical University, Syracuse, NY

Poster Abstract
Clinical laboratories collaborate to resolve variant interpretation differences in ClinVar

General

Date:
Tuesday, Oct 6, 2015 12:00am – 12:00pm

Conference:
ASHG 2015

Authors:
Steven Harrison, Jill Dolinsky, Elizabeth Chao, Lisa Vincent, Amy Knight Johnson, Danielle Azzariti, Heidi Rehm

Collaborators:

GeneDx
University of Chicago

Abstract Poster
A patient with Beaulieu-Boycott-Innes syndrome, illustrating the utility of whole exome sequencing

Clinical Genomics

Date:
Tuesday, Oct 6, 2015 12:00am – 12:00pm

Conference:
ASHG 2015

Authors:
J. Amos, S. Tang, K. Helbig, W. Alcaraz, R.R. Lebel

Collaborators:

SUNY Upstate Medical University, Syracuse, NY

Abstract
Benefits and safety of multigene panel testing in patients at risk for hereditary breast cancer

Oncology

Date:
Friday, Sep 25, 2015 11:30am – 1:00pm

Conference:
Breast Cancer Symposium 2015

Authors:
Nimmi S. Kapoor, Lisa D. Curcio, Carlee A. Blakemore, Amy K. Bremner, Rachel E. McFarland, John G. West, Kimberly C. Banks

Collaborators:

Breastlink

Abstract Poster
Overview of multi-gene panels for hereditary cancer

General

Date:
Wednesday, Sep 16, 2015 12:00am – 12:00pm

Conference:
APSHG 2015

Authors:
Emily Dalton, Jennifer Thompson

Abstract
Germline testing in hereditary cancer genes subsequent to the identification of mutations in tumor specimens

Oncology

Date:
Thursday, May 28, 2015 12:00am – 12:00pm

Conference:
ASCO 2015

Authors:
Virginia Speare, Jill Dolinsky, Holly Laduca, Carrie Horton, Laura Panos, Emily Dalton, Elizabeth Chao, Carla Mason

Poster

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Diagnostic exome sequencing identifies alterations in the newly characterized gene, COQ4, expanding the phenotypic spectrum

Diagnostic Exome Sequencing (DES) provides a diagnosis for 23% of adult patients

Variant of Unknown Significance rates vary by ethnicity and genes analyzed

Single gene (SGT) vs. Multi-gene panel testing (MGPT) for TP53 germline mutations in Li Fraumeni syndrome (LFS)

CASK mutation identified by whole exome sequencing in a patient that expands the clinical spectrum for MICPCH syndrome

Clinical laboratories collaborate to resolve variant interpretation differences in ClinVar

A patient with Beaulieu-Boycott-Innes syndrome, illustrating the utility of whole exome sequencing

Benefits and safety of multigene panel testing in patients at risk for hereditary breast cancer

Overview of multi-gene panels for hereditary cancer

Germline testing in hereditary cancer genes subsequent to the identification of mutations in tumor specimens

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