International Symposium on Hereditary Breast and Ovarian Cancer
Poster # tbd
Tuesday, May 6, 2025 2:45 - 4:15pm
Jennifer Herrera-Mullar, Terra Brannan, John Ranola, Linda Polfus, Cassidy Carraway, Carolyn Horton, Marcy E. Richardson, Rachid Karam. Breast cancer prevalence in CTNNA1 heterozygotes identified via hereditary cancer multigene panel testing.
Poster # tbd
Tuesday, May 6, 2025 2:45 - 4:15pm
Paulo C. M. Lyra, Jr., Lucas Dalcolmo, Michael Parsons, Samuel Brito, Thales C. Nepomuceno, Nam Phuong Nguyen, Marcy E. Richardson, Geise de Oliveira, Joao da Silva, Laura Caleca, Chunling Hu, Maria Rossing, Aditi Hazra, Alexandra Martins, Sandrine Caputo, Gael Millot, Joanne NgeowYuen Yie, Marcelo A. Carvalho, Melissa Cline, Paulo Radice, Rachel Carlsen, Romy Mesman, Valentina Zampiga, Vijay Joseph, Shyam Sharan, Maaike Vreeswijk, Amanda Spurdle, Fergus J. Couch, Alvaro N.A. Monteiro. Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.
Poster # tbd
Tuesday, May 6, 2025 2:45 - 4:15pm
Magan Trottier, Carolyn Horton, Lily Hoang, Jessica Grzybowski, Heather Zimmermann, Jesus Ramirez Castano, Sami Belhadj, Marcy E. Richardson, Rachid Karam. Paired DNA and RNA sequencing from 450,000 consecutive individuals: Impact on yield in hereditary breast, ovarian, pancreatic, and prostate (HBOP) cancer genes.
Poster # tbd
Tuesday, May 6, 2025 2:45 - 4:15pm
Romy L.S. Mesman, Sami Belhadj, Suzanne J.S. Musters, Sylvia Gelpke-Vermeulen, Terra Brannan, Rachid Karam, Fergus J. Couch, Marcy E. Richardson, Haico van Attikum, Maaike P.G. Vreeswijk. The dual nature of alternative splicing: How alternative transcripts rescue or attenuate the tumor suppressor activity of PALB2 variants.
Session # S1-PP3
Tuesday, May 6, 2025 11:15 - 11:25am
Chunling Hu, Fergus J. Couch, Mohamed Abozaid, Nicholas J. Boddicker, Jie Na, Tao Ma, Medha Kaul, Tara Rao, Rachid Karam, Tina Pesaran, Marcy E. Richardson, Siddhartha Yadav, Wenan Chen. Functional validation and clinical classification of all missense variants characterized by saturation genome editing of RAD51C
Session # Ambry Breakfast Presentation
Wednesday, May 7, 2025 8:00 - 8:45am
Marcy Richardson, PhD, Associate Director, Clinical Research. Structural and functional components of variant assessment in hereditary breast and ovarian cancer susceptibility