Women's Health / Primary Care Archives

Poster

Partially functional (hypomorphic) missense variants in BRCA2 are reduced penetrance pathogenic variants

Oncology

Women's Health / Primary Care

Date:

Wednesday, Dec 10, 2025 7:00am – 8:30am

Conference:

SABCS 2025

Authors:

Katherine Nathanson, Rachid Karam, PhD, Tina Pesaran, MA, MS, CGC, Marcy E. Richardson, Fergus Couch, Huaizhi Huang, Chunling Hu, Jie Na, Matthew Kucera, Timothy Simmons, Erin Mundt, Colin C. Young, Zahra Heidari, Paulo Cilas Morais Lyra, Yen Y. Tan, Tuya Pal, Siddhartha Yadav, Susan M. Domchek, Alvaro N.A. Monteiro, Elisha Hughes, Nicholas Boddicker, Wenan Chen

Collaborators:

H. Lee Moffitt Cancer Center and Research Institute

Institute of Medical Genetics, Medical University of Vienna

Mayo Clinic

Myriad Genetics

Perelman School of Medicine at the University of Pennsylvania

Vanderbilt-Ingram Cancer Center

Abstract Poster

Poster

Paired DNA and RNA sequencing from 450,000 consecutive individuals: Impact on yield in hereditary breast, ovarian, pancreatic, and prostate (HBOP) cancer genes

Oncology

Women's Health / Primary Care

Date:

Tuesday, Apr 22, 2025 4:00pm – 5:00pm

Conference:

Basser Scientific Symposium 2025

Authors:

Jessica Grzybowski, Heather Zimmermann, Marcy E. Richardson, Rachid Karam, PhD, Magan Trottier, Carolyn Horton, Lily Hoang, Jesus Ramirez Castano, Sami Belhadj

Poster Abstract

Poster

Paired DNA and RNA sequencing from 450,000 consecutive individuals: Impact on yield in hereditary breast, ovarian, pancreatic, and prostate (HBOP) cancer genes

Oncology

Women's Health / Primary Care

Date:

Tuesday, May 6, 2025 2:45pm – 4:15pm

Conference:

BRCA 2025

Authors:

Jessica Grzybowski, Heather Zimmermann, Marcy E. Richardson, Rachid Karam, PhD, Magan Trottier, Carolyn Horton, Lily Hoang, Jesus Ramirez Castano, Sami Belhadj

Poster Abstract

Poster

Breast cancer prevalence in CTNNA1 heterozygotes identified via hereditary cancer multigene panel testing

Oncology

Women's Health / Primary Care

Date:

Tuesday, May 6, 2025 2:45pm – 4:15pm

Conference:

BRCA 2025

Authors:

Jennifer Herrera-Mullar, Cassidy Carraway, Marcy E. Richardson, Rachid Karam, PhD, Terra Brannan, John Ranola, Linda Polfus, Carolyn Horton

Poster Abstract

Poster

Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance

Oncology

Women's Health / Primary Care

Date:

Tuesday, May 6, 2025 2:45pm – 4:15pm

Conference:

BRCA 2025

Authors:

Marcy E. Richardson, Amanda Spurdle, Fergus Couch, Paulo C. M. Lyra, Jr., Lucas Dalcolmo, Michael Parsons, PhD, Samuel Brito, Thales C. Nepomuceno, Nam Phuong Nguyen, 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, Alvaro N.A. Monteiro

Collaborators:

ENIGMA

Abstract

Presentation

Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

Oncology

Women's Health / Primary Care

Speakers:

Fergus J. Couch, Huaizhi Huang, Tina Pesaran, Rachid Karam, Siddhartha Yadav, Susan M. Domchek, Alvaro N.A. Monteiro, Nicholas Boddicker, Wenan Chen, Marcy E. Richardson, Chunling Hu

Conference:

ASCO 2024

Saturday, Jun 1, 2024 8:12am – 8:18am

Collaborators:

H. Lee Moffitt Cancer Center and Research Institute

Mayo Clinic

Perelman School of Medicine at the University of Pennsylvania

Abstract