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Cancer-specific risks associated with germline PALB2 pathogenic variants from a large clinical genetic testing cohort

Oncology

Speakers:
Yen Y. Tan, Chunling Hu, Huaizhi Huang, Nicholas Boddicker, Wenan Chen, Medha Kaul, Tara Rao, Alvaro N.A. Monteiro, Tina Pesaran, Rachid Karam, Susan M. Domchek, Siddhartha Yadav, Marcy E. Richardson, Fergus J. Couch

Conference:
SABCS 2025

Sunday, Oct 12, 2025 12:30pm – 1:30pm

Collaborators:

Institute of Medical Genetics, Medical University of Vienna
Mayo Clinic
Moffitt Cancer Center
University of Pennsylvania

Abstract
Functional validation and clinical classification of all missense variants characterized by saturation genome editing of RAD51C

Clinician

Speakers:
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

Conference:
BRCA 2025

Tuesday, May 6, 2025 11:15am – 11:25am

Collaborators:

Mayo Clinic

Abstract
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
Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing

Oncology

Session:
#6615

Speakers:
Tuya Pal, Erin Mundt, Marcy E. Richardson, Elizabeth Chao, Tina Pesaran, Thomas P. Slavin, Fergus J. Couch, Alvaro N.A. Monteiro

Conference:
AACR 2024

Tuesday, Apr 9, 2024 3:05pm – 3:20pm

Collaborators:

Mayo Clinic
Moffitt Cancer Center
Myriad Genetics
Vanderbilt-Ingram Cancer Center

Abstract
Multiplexed assays of variant effect for all possible missense alterations located in the DNA binding domain of BRCA2

Oncology

Speakers:
Fergus J. Couch, PhD

Conference:
BRCA Symposium 2023

Wednesday, May 3, 2023 10:05am – 10:15am

Collaborators:

Mayo Clinic

Abstract
Functional and clinical characterization of BRCA2 hypomorphic missense variants

Oncology

Speakers:
Fergus J. Couch, PhD

Conference:
BRCA Symposium 2023

Tuesday, May 2, 2023 10:55am – 11:05am

Collaborators:

Mayo Clinic

Abstract
BRCA1 frameshift variants leading to extended incorrect protein termini

Oncology

Speakers:
T. Nepomuceno; Marcy Richardson, PhD

Conference:
BRCA Symposium 2023

Tuesday, May 2, 2023 11:17am – 11:20am

Collaborators:

Duke University School of Medicine
Lund University
Mayo Clinic
Moffitt Cancer Center
Rutgers Cancer Institute of New Jersey

Abstract
The uniform application of protein functional data has an impressive potential to resolve VUS rates in BRCA2

Oncology

Speakers:
Marcy Richardson, Chunling Hu, Kun Y. Lee, Holly LaDuca, Kelly Fulk, Kate M. Durda, Ashley M. Deckman, David E. Goldgar, Rohan Gnanaolivu, Steven N. Hart, Eric C. Polley, Elizabeth Chao, Tina Pesaran, Fergus J. Couch

Conference:
ACMG 2021

Tuesday, Apr 13, 2021 12:00am – 12:00pm

Collaborators:

Mayo Clinic
University of Utah

Abstract
A collaborative view of genomic variant interpretation: Clinical genetic counselors, laboratories, and patients

Clinician
Oncology

Speakers:
Karen Wain, Emily Palen, Ana Morales, Kami Wolfe Schneider, Kristy Lee, Jessica Mester, Tina Pesaran, Sarah Barnett, Casie Genetti, Amanda Buchanan, Juliann Savatt, Danielle Azzariti

Conference:
NSGC 2018

Wednesday, Nov 14, 2018 8:00am – 2:00pm

Collaborators:

Boston University
Mayo Clinic
Ohio State University (OSU)
University of North Carolina at Chapel Hill
Polygenic risk score for breast cancer in high-risk women

Oncology

Session:
#1508

Speakers:
Maryu00a0Helenu00a0Black, Shuwei Li, Holly LaDuca, Jeffery Checn, Robert Hoiness, Stephanie Gutierrez, Hsiao-Mei Lu, Jillu00a0Su00a0Dolinsky, Jianfeng Xu, Celine Vachon, Fergus J. Couch, Brigette Tippin Davis

Conference:
ASCO 2018

Sunday, Jun 3, 2018 8:00am – 11:00am

Collaborators:

Mayo Clinic

Abstract

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Cancer-specific risks associated with germline PALB2 pathogenic variants from a large clinical genetic testing cohort

Functional validation and clinical classification of all missense variants characterized by saturation genome editing of RAD51C

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

Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing

Multiplexed assays of variant effect for all possible missense alterations located in the DNA binding domain of BRCA2

Functional and clinical characterization of BRCA2 hypomorphic missense variants

BRCA1 frameshift variants leading to extended incorrect protein termini

The uniform application of protein functional data has an impressive potential to resolve VUS rates in BRCA2

A collaborative view of genomic variant interpretation: Clinical genetic counselors, laboratories, and patients

Polygenic risk score for breast cancer in high-risk women

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