CGA-ICG 2023 Visit Us At Booth #6

CGA-ICG 2023


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Scientific Posters

Poster # P-077

Thursday, October 26, 2023 8:00 - 1:30pm

Terra Brannan, Phd; Rachid Karam, MD, PhD; Christine M. Drogan; Sonia S. Kupfer. “Splicing it all together”: Discovery of a novel likely pathogenic CDH1 variant using RNA analysis.

Poster # P-043

Thursday, October 26, 2023 8:00 - 1:30pm

Colin Young, PhD. 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

Terra Brannan,Phd; Shabnam Asgari; Aida Akopyan; Matthew Varga; Ora Gordon; Marcy Richardson, PhD. 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

Anthony Scott; Xiaoyan Jia; Grace Clark; Sajini Jayakody; Bala Burugula; Rachid Karam, MD, PhD; Felicia Hernandez; Ashley Marsh; Sami Belhadj; Matthew Varga;. Application of deep mutational scanning data for MLH1 variant interpretation.

Poster # P-002

Thursday, October 26, 2023 8:00 - 1:30pm

Marcy Richardson, PhD; Colin Young, PhD; Terra Brannan,Phd; Tina Pesaran, MS, CGC. ATM and PALB2 Variant Curation Guidelines Progress Update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel .

Poster # P-030

Thursday, October 26, 2023 8:00 - 1:30pm

Carrie Horton, MS-CGC; PhD; Rebecca Mar-Heyming; Felicia Hernandez; Ashley P.L. Marsh; Steven Harrison; Jessica Grzybowski, MS, CGC; Marcy Richardson, PhD; Daniel Kostecki; Christopher Lau; Elizabeth Chao, MD, FACMG; Heather Hampel. Importance of accurate EPCAM deletion characterization to prevent misdiagnosis of Lynch syndrome.

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