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Divergent payor medical policy leads to gross disparities in access to hereditary breast and ovarian cancer genetic testing

Oncology

Date:
Tuesday, Apr 13, 2021 12:00am – 11:55pm

Conference:
ACMG 2021 Virtual

Authors:
Robert Pilarski, Stephanie Gutierrez, Stephanie Gandomi, Holly Laduca, Jill Dolinsky, Lily Hoang, Randy Hew

Poster
Quantitative evaluation of methods designed to improve the accuracy and quality of multi-gene panel testing for hereditary cancer

Oncology

Date:
Thursday, Mar 18, 2021 12:00am – 12:00pm

Conference:
NCCN 2021

Authors:
Holly Laduca, Jessica Profato, Adam Chamberlin, Tina Pesaran, MA, MS, CGC, Rachid Karam, PhD, Elizabeth Chao, Carolyn Horton, Jill Dolinksy, Lily Hoang, Jefferey Chen, Hsiao-Mei Lu

Collaborators:

University of California, Irvine

Poster
Unblurring the ultrasound lines: 45% of infants with prenatal findings receive a reportable result on diagnostic exome sequencing

Clinical Genomics

Date:
Friday, Dec 18, 2020 12:00am – 12:00pm

Conference:
NSGC 2020

Authors:
Meghan Towne, Stephanie Brooks, Kendra Webb, Christina Alamillo

Poster Abstract
Melanoma risk in POT1 mutation carriers from a MGPT cohort

Oncology

Date:
Friday, Dec 18, 2020 12:00am – 12:00pm

Conference:
NSGC 2020

Authors:
Kelly Fulk, Jennifer Herrera-Mullar, Carrie Horton, Holly Laduca

Poster Abstract
Expanding the detection range of DNA multigene panel testing with concurrent RNA sequencing

General

Date:
Friday, Dec 18, 2020 12:00am – 12:00pm

Conference:
NSGC 2020

Authors:
Holly Laduca, Lindsay Lipe, Shreya Malhotra, Jessica Profato, Tina Pesaran, MA, MS, CGC, Elizabeth Chao, Rachid Karam, PhD, Lily Hoang, Carolyn Horton, Jill Dolinksy

Poster Abstract
RNA genetic testing improves detection of patients with hereditary breast cancer

General
Oncology

Date:
Tuesday, Dec 8, 2020 12:00am – 12:00pm

Conference:
SABCS 2020

Authors:
Holly Laduca, Jessica Profato, Tameron Harvell, Tina Pesaran, MA, MS, CGC, Rachid Karam, PhD, Lily Hoang, Carolyn Horton, Jill Dolinksy

Abstract
Low variant allele fraction as a predictor of TP53 variant pathogenicity

General

Date:
Tuesday, Nov 24, 2020 12:00am – 12:00pm

Conference:
HGSA 2020

Authors:
Tina Pesaran, MA, MS, CGC, Kelly McGoldrick, Cristina Fortuno, Jill Dolinksy, Paul A. James, Amanda B. Spurdle

Collaborators:

Parkville Familial Cancer Centre

Abstract
Estimating sensitivity of the International Gastric Cancer Linkage Consortium’s (IGCLC) 2020 Hereditary Diffuse Gastric Cancer (HDGC) genetic testing criteria.

Oncology

Date:
Saturday, Nov 14, 2020 12:00am – 12:00pm

Conference:
CGA-IGC 2020

Authors:
Rachid Karam, PhD, Holly Laduca, Virginia Speare, Benjamin A. Lerner, Rosa M. Xicola, Nicolette J. Rodriguez, Xavier Llor

Collaborators:

Brigham and Women's Hospital
Yale University School of Medicine

Abstract
Expanding the limits of DNA-based testing – Simultaneous RNA analysis identifies pathogenic variants in APC that may otherwise not be identified

General

Date:
Saturday, Nov 14, 2020 12:00am – 12:00pm

Conference:
CGA-IGC 2020

Authors:
Jessica Profato, Holly Laduca, Marcy Richardson, Heather Zimmermann, Carrie Horton, Elizabeth Chao, Rachid Karam, PhD, Colin Young, PhD, Lily Hoang, Shoji Ichikawa

Poster
Identification of an Alu insertion in MSH2 by next-generation sequencing in a family with Lynch syndrome: An 8-year diagnostic odyssey

Oncology

Date:
Saturday, Nov 14, 2020 12:00am – 12:00pm

Conference:
CGA-IGC 2020

Authors:
Jessica Grzybowski, Amanda Jacquart, Stefano Rosati, Donald Basel, Michael Muriello

Collaborators:

Medical College of Wisconsin

Poster Abstract

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Divergent payor medical policy leads to gross disparities in access to hereditary breast and ovarian cancer genetic testing

Quantitative evaluation of methods designed to improve the accuracy and quality of multi-gene panel testing for hereditary cancer

Unblurring the ultrasound lines: 45% of infants with prenatal findings receive a reportable result on diagnostic exome sequencing

Melanoma risk in POT1 mutation carriers from a MGPT cohort

Expanding the detection range of DNA multigene panel testing with concurrent RNA sequencing

RNA genetic testing improves detection of patients with hereditary breast cancer

Low variant allele fraction as a predictor of TP53 variant pathogenicity

Estimating sensitivity of the International Gastric Cancer Linkage Consortium’s (IGCLC) 2020 Hereditary Diffuse Gastric Cancer (HDGC) genetic testing criteria.

Expanding the limits of DNA-based testing – Simultaneous RNA analysis identifies pathogenic variants in APC that may otherwise not be identified

Identification of an Alu insertion in MSH2 by next-generation sequencing in a family with Lynch syndrome: An 8-year diagnostic odyssey

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