Collaborative Group of the Americas on Inherited Colorectal Cancer annual meeting
Poster # P-077
Thursday, October 26, 2023 8:00 - 1:30pm Abstract
Christine M. Drogan, Terra Brannan, Rachid Karam, Sonia S. Kupfer. “Splicing it all together”: Discovery of a novel likely pathogenic CDH1 variant using RNA analysis.
Poster # P-002
Thursday, October 26, 2023 8:00 - 1:30pm Abstract Poster
Terra Brannan, Megan Holdren, Marcy E. Richardson, Deborah Ritter, Colin Young, Tina Pesaran, Lauren Zec, Susan Hiraki, Michael Anderson, Melissa Southey, Clare Turnbull, Marc Tischkowitz, Huma Rana, Shannon McNulty Gray, Sean Tavtigian, Logan Walker, William D. Foulkes, Alvaro N.A. Monteiro, Sarah Brnich, Melissa Cline, Amanda B. Spurdle, Miguel de la Hoya, Fergus J. Couch. ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel.
Poster # P-043
Thursday, October 26, 2023 8:00 - 1:30pm Abstract Poster
Brittany Faye Sears, Colin C. Young, Douglas Riegert-Johnson. A novel insertion/deletion in APC gene Promotor 1B is associated with both stomach and colon polyposis .
Poster # P-076
Thursday, October 26, 2023 8:00 - 1:30pm Abstract Poster
Terra Brannan, Shabnam Asgari, Aida Akopyan, Matthew Varga, Ora Gordon, Marcy Richardson. A novel missense variant in CDH1 causes hereditary diffuse gastric and lobular breast cancer syndrome independently of splicing.
Poster # P-051
Thursday, October 26, 2023 8:00 - 1:30pm Abstract Poster
Anthony Scott, Xiaoyan Jia, Grace Clark, Sajini Jayakody, Bala Burugula, Jacob Kitzman, Felicia Hernandez, Rachid Karam, Ashley P.L. Marsh, Sami Belhadj, Matthew Varga. Application of deep mutational scanning data for MLH1 variant interpretation.
Poster # P-030
Thursday, October 26, 2023 8:00 - 1:30pm Abstract Poster
Carolyn Horton, Rebecca Mar-Heyming, Felicia Hernandez, Ashley P.L. Marsh, Steven Harrison, Jessica Grzybowski, Marcy E. Richardson, Daniel Kostecki, Christopher Lau, Elizabeth Chao, Heather Hampel. Importance of accurate EPCAM deletion characterization to prevent misdiagnosis of Lynch syndrome.