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Showing 10 of 536 Results

Phenotype and Colorectal Cancer Risk in APC I1307K Homozygotes.

Oncology

Session:
#127

Date:
Friday, Oct 20, 2017 5:30pm – 7:00pm

Conference:
CGA-ICC 2017

Authors:
Kory Jasperson, Mary Pritlzaff

Abstract Poster
Concordance of Multi-Gene Panel Testing with Prior Microsatellite Instability and Immunohistochemistry Analyses.

Oncology

Session:
#126

Date:
Friday, Oct 20, 2017 5:30pm – 7:00pm

Conference:
CGA-ICC 2017

Authors:
Kory Jasperson, Carin Espenschied, Heather Hampel, Patrick Reineke, Tina Pesaran, MA, MS, CGC, Ian M Frayling

Abstract Poster
Diagnostic Exome Sequencing (DES) coupled with rules-based candidate gene analysis identifies a causative RRAS lesion in a patient with a novel RASopathy.

Clinical Genomics

Session:
#2529

Date:
Friday, Oct 20, 2017 11:30am – 12:30pm

Conference:
ASHG 2017

Authors:
Deepali Shinde, Cameron Mroske, Jesse Hunter, Katherine Helbig

Poster
Tumor characteristics provide evidence for MMR variant pathogenicity

Oncology

Session:
#2418

Date:
Friday, Oct 20, 2017 12:30pm – 1:30pm

Conference:
ASHG 2017

Authors:
Shuwei Li, Aaron Elliott, Mary Helen Black, Jacob Clifford, Dajun Qian, Yuan Tian, Hsiao-Mei Lu

Abstract Poster
Beyond the NMD Boundary: Characterizing the Phenotypes of C-terminal CDH1 Mutations

Session:
#597

Date:
Friday, Oct 20, 2017 11:30am – 12:30pm

Conference:
ASHG 2017

Authors:
Carin Espenschied, Adam Chamberlin, Rachid Karam, PhD, Kate Krempely, Ira Lu

Abstract Poster
Role of HOXB13 in breast and ovarian cancer: Preliminary data from a laboratory-based multigene panel testing cohort.

Oncology

Session:
#621

Date:
Friday, Oct 20, 2017 11:30am – 12:30pm

Conference:
ASHG 2017

Authors:
Carrie Horton, Holly Laduca, Jessica Grzybowski, Chia-Ling Gau, PhD, DABMG

Abstract Poster
Comparison of variant classification algorithms incorporating clinical and family history for breast and ovarian cancer.

Oncology

Session:
#2376

Date:
Friday, Oct 20, 2017 12:30pm – 1:30pm

Conference:
ASHG 2017

Authors:
Mary Helen Black, Aaron Elliott, Shuwei Li, Jacob Clifford, Hsiao-Mei Lu

Abstract Poster
Gene-specific criteria for PTEN variant curation.

Oncology

Session:
#2558

Date:
Thursday, Oct 19, 2017 3:00pm – 4:00pm

Conference:
ASHG 2017

Authors:
Tina Pesaran, MA, MS, CGC, Rachid Karam, PhD, Jessica Mester, Rajarshi Ghosh, Robert Huether, Kathleen Hruska, Helio Costa, Katherine Lachlan, Joanne Ngeow, Jill Barnholtz-Sloan, Liying Zhang, Kaitlin Sesock, Sharon Plon, Madhuri Hegde, Charis Eng

Collaborators:

Baylor College of Medicine
Stanford

Abstract
Parental variant study is informative for variant classification in significant number of neurodevelopment genes

Neurology

Session:
#2471

Date:
Thursday, Oct 19, 2017 2:00pm – 3:00pm

Conference:
ASHG 2017

Authors:
Rhonda Lassiter, Tina Pesaran, MA, MS, CGC, Jade Tinker, Elaine C. Weltmer, Shoji Ichikawa, Heather Newman, Tiffiney Carter, Negar Ghahramani, Lucia Guidugli, Jing Wang

Abstract Poster
Diagnostic yield and mutation spectrum of multigene panel testing for hypertrophic cardiomyopathy

Cardiology

Session:
#2420

Date:
Thursday, Oct 19, 2017 2:00pm – 3:00pm

Conference:
ASHG 2017

Authors:
Tami Johnston, Jill Dolinsky, Tina Pesaran, MA, MS, CGC, Lan Qin, Jing Wang, Lily Hoang, Christian Antolik

Abstract Poster

… …

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Phenotype and Colorectal Cancer Risk in APC I1307K Homozygotes.

Concordance of Multi-Gene Panel Testing with Prior Microsatellite Instability and Immunohistochemistry Analyses.

Diagnostic Exome Sequencing (DES) coupled with rules-based candidate gene analysis identifies a causative RRAS lesion in a patient with a novel RASopathy.

Tumor characteristics provide evidence for MMR variant pathogenicity

Beyond the NMD Boundary: Characterizing the Phenotypes of C-terminal CDH1 Mutations

Role of HOXB13 in breast and ovarian cancer: Preliminary data from a laboratory-based multigene panel testing cohort.

Comparison of variant classification algorithms incorporating clinical and family history for breast and ovarian cancer.

Gene-specific criteria for PTEN variant curation.

Parental variant study is informative for variant classification in significant number of neurodevelopment genes

Diagnostic yield and mutation spectrum of multigene panel testing for hypertrophic cardiomyopathy

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