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Digital cancer genetic risk assessment in a gynecologic oncology clinic

Oncology

Session:
#245

Date:
Saturday, Jun 3, 2023 1:15pm – 4:15pm

Conference:
ASCO 2023

Authors:
Emily Webster, Muhammad Danyal Ahsan, Luiza Perez, Leslie Bull, Laura Keenahan, Sarah R. Levi, Shannon M. Kieran, Evelyn Cantillo, Eloise Chapman-Davis, Kevin Holcomb, Ravi N. Sharaf, Melissa Kristen Frey

Poster Abstract
A scalable approach to democratizing cancer risk stratification: One healthcare system’s approach using a patient-facing digital platform

Oncology

Session:
#255

Date:
Saturday, Jun 3, 2023 1:15pm – 4:15pm

Conference:
ASCO 2023

Authors:
Heather Fecteau, Dax Kurbegov, Reena Manhar Patel, Haley Keller, Carolyn Horton, Lily Hoang, Shannon M. Kieran

Abstract Poster
BRCA1 frameshift variants leading to extended incorrect protein termini

Oncology

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

Conference:
BRCA Symposium 2023

Authors:
Thales Nepomuceno, PhD (Moffit); Marcy Richardson, PhD

Collaborators:

Moffitt Cancer Center

Abstract Poster
Beyond the colon: Do biallelic variants in NTHL1 predispose to breast cancer?

Oncology

Date:
Tuesday, May 2, 2023 2:45pm – 4:15pm

Conference:
BRCA Symposium 2023

Authors:
Jennifer Herrera-Mullar, MGC, CGC, DMA; Cassidy Carraway; Ady Batcheva; Tim Komala; Carrie Horton, MS, CGC; Sami Belhadj

Abstract
Substantially different penetrance of different pathogenic variants in BRCA1 exon 20 (18): Not all pathogenic variants are equal

Oncology

Date:
Tuesday, May 2, 2023 2:45pm – 3:15pm

Conference:
BRCA Symposium 2023

Authors:
Emma Woodward, PhD; Marcy Richardson, PhD; Carrie Horton, MS-CGC; Matt Varga; Cassidy Carraway

Poster Abstract
Identification of BRCA1 biallelic pathogenic variants in a Fanconi Anemia patient and the clinical implications of variant location

Oncology

Date:
Tuesday, May 2, 2023 2:45pm – 4:15pm

Conference:
BRCA Symposium 2023

Authors:
Colin C. Young, PhD; Ashley Lahr, MS,CGC; Caroline Nestor, BS; Damara Ortiz, MD, FAAP, FACMG; Linford Williams, MS, CGC; Ashley Kaminski, MS, CGC; Marcy E. Richardson, PhD; Georgianne Arnold, MD, FACMG

Collaborators:

University of Pittsburgh Medical Center (UPMC)

Poster Abstract
Small-Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) has approximately 20-30% penetrance in individuals carrying loss-of-function mutations in SMARCA4

Oncology

Date:
Tuesday, May 2, 2023 2:45pm – 4:15pm

Conference:
BRCA Symposium 2023

Authors:
Jamie D. Weyandt, PhD, Colin Young, PhD, Linda Polfus, PhD, John Ranola, PhD, Cassidy Carraway, Carolyn Horton, MS, CGC, Marcy E. Richardson, PhD

Poster Abstract
Reduced risk BRCA1 and BRCA2 variants: Insight into classification of concordant variants between two commercial laboratories

Oncology

Date:
Tuesday, May 2, 2023 2:45pm – 4:15pm

Conference:
BRCA Symposium 2023

Authors:
Tuya Pal, MD; Marcy Richardson, PhD; Tina Pesaran, MS, CGC; Elizabeth Chao, MD, FACMG

Collaborators:

Mayo Clinic
Moffitt Cancer Center
Myriad Women's Health

Abstract Poster
The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2

Oncology
Research

Date:
Friday, Mar 17, 2023 10:30am – 12:30pm

Conference:
ACMG 2023

Authors:
Michael Parsons, PhD, Marcy Richardson, Phd; Tina Pesaran, MS,CGC; Rachid Karam, MD, PhD

Poster Abstract
ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

Oncology
Research

Date:
Thursday, Mar 16, 2023 10:30am – 12:00pm

Conference:
ACMG 2023

Authors:
Megan Holdren, MS,CGC, Marcy Richardson, PhD; Colin Young, PhD; Terra Brannan,Phd; Tina Pesaran, MS, CGC

Collaborators:

Baylor College of Medicine
GeneDx
Invitae Corporation
McGill University
QIMR Berghofer Medical Research Institute
University of North Carolina at Chapel Hill
University of Utah

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Digital cancer genetic risk assessment in a gynecologic oncology clinic

A scalable approach to democratizing cancer risk stratification: One healthcare system’s approach using a patient-facing digital platform

BRCA1 frameshift variants leading to extended incorrect protein termini

Beyond the colon: Do biallelic variants in NTHL1 predispose to breast cancer?

Substantially different penetrance of different pathogenic variants in BRCA1 exon 20 (18): Not all pathogenic variants are equal

Identification of BRCA1 biallelic pathogenic variants in a Fanconi Anemia patient and the clinical implications of variant location

Small-Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) has approximately 20-30% penetrance in individuals carrying loss-of-function mutations in SMARCA4

Reduced risk BRCA1 and BRCA2 variants: Insight into classification of concordant variants between two commercial laboratories

The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2

ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

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