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:

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

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:

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

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

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

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:

Aditi Hazra, Alexandra Martins, Alvaro N.A. Monteiro, Amanda Spurdle, Chunling Hu, Fergus Couch, Gael Millot, Geise de Oliveira, Joanne NgeowYuen Yie, Joao da Silva, Laura Caleca, Lucas Dalcolmo, Maaike Vreeswijk, Marcelo A. Carvalho, Marcy E. Richardson, Maria Rossing, Melissa Cline, Michael Parsons, PhD, Nam Phuong Nguyen, Paulo C. M. Lyra, Jr., Paulo Radice, Rachel Carlsen, Romy Mesman, Samuel Brito, Sandrine Caputo, Shyam Sharan, Thales C. Nepomuceno, Valentina Zampiga, Vijay Joseph

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