CGA-IGC 2023

Thursday

October 26

Poster Session 8:00 AM – 1:30 PM (6 Posters)

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Thursday, October 26

8:00 AM – 1:30 PM

6 Posters

Session

PP-043

A novel insertion/deletion in APC gene Promotor 1B is associated with both stomach and colon polyposis

Poster

Abstract

Brittany Faye Sears, Colin C. Young, Douglas Riegert-Johnson

Session

PP-002

ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

Abstract

Poster

Alvaro N.A. Monteiro, Amanda B. Spurdle, Clare Turnbull, Colin Young, PhD, Deborah Ritter, Fergus Couch, Huma Rana, Lauren Zec, Logan Walker, Marc Tischkowitz, Marcy E. Richardson, Megan Holdren, MS,CGC, Melissa Cline, Melissa Southey, Michael Anderson, Miguel de la Hoya, Sarah Brnich, Sean Tavtigian, Shannon McNulty Gray, Susan Hiraki, Terra Brannan, Tina Pesaran, MA, MS, CGC, William D. Foulkes

Session

PP-051

Application of deep mutational scanning data for MLH1 variant interpretation

Abstract

Poster

Anthony Scott, Ashley P.L. Marsh, Bala Burugula, Felicia Hernandez, Grace Clark, Jacob Kitzman, Matthew Varga, Rachid Karam, PhD, Sajini Jayakody, Sami Belhadj, Xiaoyan Jia

Session

PP-077

“Splicing it all together”: Discovery of a novel likely pathogenic CDH1 variant using RNA analysis

Abstract

Christine M. Drogan, Rachid Karam, PhD, Sonia S. Kupfer, Terra Brannan

Session

PP-030

Importance of accurate EPCAM deletion characterization to prevent misdiagnosis of Lynch syndrome

Poster

Abstract

Ashley P.L. Marsh, Carolyn Horton, Christopher Lau, Daniel Kostecki, Elizabeth Chao, Felicia Hernandez, Heather Hampel, Jessica Grzybowski, Marcy E. Richardson, Rebecca Mar-Heyming, Steven Harrison

Session

PP-076

A novel missense variant in CDH1 causes hereditary diffuse gastric and lobular breast cancer syndrome independently of splicing

Poster

Abstract

Aida Akopyan, Marcy Richardson, Matthew Varga, Ora Gordon, Shabnam Asgari, Terra Brannan