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Addressing equity in exome sequencing: Proactive reanalysis helps to reduce racial, ethnic, and ancestral disparities

Speakers:
Andrew Giles

Conference:
NSGC 2023

Thursday, Oct 19, 2023 4:45pm – 5:45pm

Abstract
Not all actionable variants in BRCA1 and BRCA2 are created equal: Challenges of classifying and interpreting reduced-penetrance variants

Clinical Genomics

Speakers:
Marcy Richardson, PhD; Tuya Pal (Vanderbilt), Erin Mundt (Myriad), Matthew Lebo (LMMM), Yeni Rodriguez Sanabria

Conference:
NSGC 2023

Thursday, Oct 19, 2023 11:00am – 12:30pm
Democratizing cancer risk stratification: HCA healthcare’s scalable approach using a patient-facing digital platform

Ambry CARE Program
Oncology

Speakers:
Dax Kurbegov, MD, FASCO

Conference:
TME 2023

Friday, Sep 22, 2023 11:00am – 12:00pm
Germline genetic testing use and results after a cancer diagnosis

Oncology

Session:
#10500

Speakers:
Allison W. Kurian, Paul Abrahamse, Allison Kate Cullen Furgal, Kevin C. Ward, Ann S. Hamilton, Rachel Hodan, Lihua Liu, Jonathan S. Berek, Lily Hoang, Amal Yussuf, Lisa R. Susswein, Edward D. Esplin, Thomas Paul Slavin, Scarlett L. Gomez, Timothy Hofer, Steven Katz

Conference:
ASCO 2023

Monday, Jun 5, 2023 3:00pm – 6:00pm
Breast cancer risk associated with missense variants in BRCA2

Oncology

Session:
#10501

Speakers:
Siddhartha Yadav, Marcy Richardson, Rachid Karam, Nicholas Boddicker, Chunling Hu, Yohannes Tecleab, Peter Kraft, Jeffrey N. Weitzel, Susan M. Domchek, Katherine L. Nathanson, Fergus J. Couch

Conference:
ASCO 2023

Monday, Jun 5, 2023 3:00pm – 6:00pm

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
Variant reclassification in a large cardiogenetic testing cohort: The importance of disease-specific variant classification criteria

Cardiology
Oncology

Speakers:
Meghan Towne

Conference:
ACMG 2023

Thursday, Mar 16, 2023 11:45am – 12:00pm
Classification of sequence variants in cancer susceptibility genes: Today and tomorrow

Clinical Genomics
Oncology

Speakers:
Marcy Richardson, PhD

Conference:
ACMG 2023

Wednesday, Mar 15, 2023 10:30am – 12:00pm

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Addressing equity in exome sequencing: Proactive reanalysis helps to reduce racial, ethnic, and ancestral disparities

Not all actionable variants in BRCA1 and BRCA2 are created equal: Challenges of classifying and interpreting reduced-penetrance variants

Democratizing cancer risk stratification: HCA healthcare’s scalable approach using a patient-facing digital platform

Germline genetic testing use and results after a cancer diagnosis

Breast cancer risk associated with missense variants in BRCA2

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

Variant reclassification in a large cardiogenetic testing cohort: The importance of disease-specific variant classification criteria

Classification of sequence variants in cancer susceptibility genes: Today and tomorrow

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