CGA-IGC 2020 - Ambry Genetics

Saturday

November 14

Poster Session 12:00 AM – 12:00 PM (3 Posters)
Oral Presentations 12:00 AM – 12:00 PM

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Saturday, November 14

12:00 AM – 12:00 PM

3 Posters

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

Poster

Abstract

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

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

Poster

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

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

Abstract

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

Saturday, November 14

12:00 AM – 12:00 PM

1 Presentation

Development and validation of the PREMMplus clinical prediction model for multigene hereditary cancer risk assessment

Abstract

Matthew B. Yurgelun, Hajime Uno, C. Sloane Furniss, Chinedu I. Ukaegbu, Miki Horiguchi, Israel Gomy, Anu B. Chittenden, Tara Fehlmann, Amal Yussuf, Holly LaDuca, Judy E. Garber, Sapna Syngal