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Expanding cohort of individuals with p.V142I homozygous alterations suggests presentation onset similar to heterozygotes

Cardiology

Date:
Tuesday, Mar 22, 2022 12:00am – 12:00pm

Conference:
ACMG 2022

Authors:
Meghan Towne, Melissa Holman, Ana Bozas, Jing Zhou, Andrew Rosen, Kunal Bhatt

Collaborators:

Emory University
Ionis Pharmaceuticals

Abstract
Inequitable access to genetic testing leads to missed screening and prevention opportunities for individuals at risk for hereditary breast and ovarian cancer

Date:
Tuesday, Dec 7, 2021 12:00am – 12:00pm

Conference:
SABCS 2021

Authors:
Stephanie Gutierrez, Stephanie Gandomi, Holly Laduca, Rob Pilarski, Randy Hew, Jill Dolinksy, Lily Hoang

Poster Abstract
Pathogenic variants among female breast cancer patients with a subsequent cancer demonstrate preventable cancer burden

Oncology

Date:
Tuesday, Dec 7, 2021 12:00am – 12:00pm

Conference:
SABCS 2021

Authors:
Amal Yussuf, Carrie Horton, Holly Laduca, Judy E. Garber, Huma Rana, Brittany L. Bychkovsky, Min-Tzu Lo, Parichehr Hemyari

Collaborators:

Dana Farber Cancer Institute
Harvard Medical School

Poster Abstract
Comparison of colorectal cancer patients with Lynch Syndrome, double somatic mutations, and MLH1 promoter hypermethylation

Oncology

Date:
Saturday, Nov 13, 2021 12:00am – 12:00pm

Conference:
CGA-IGC 2021

Authors:
Monalyn Umali Salvador, Erica Wellington, Kelly Fulk, Holly Laduca, Stephanie Gutierrez, Elizabeth Chao, Min-Tzu Lo, Parichehr Hemyari, Lily Hoang

Collaborators:

University of California, Irvine

Abstract
N-terminal truncating variants in APC in tatients without overt Familial Adenomatous Polyposis

Oncology

Date:
Saturday, Nov 13, 2021 12:00am – 12:00pm

Conference:
CGA-IGC 2021

Authors:
Marcy Richardson, Carrie Horton, Elizabeth Chao, June Mikkelson, Pia Summerour

Collaborators:

University of California, Irvine

Abstract Poster
Succinate dehydrogenase pathogenic variants are not associated with non-canonical cancers

Oncology

Session:
#187

Date:
Thursday, Nov 4, 2021 12:00am – 12:00pm

Conference:
NANETS 2021

Authors:
Carrie Horton, Katherine Nathanson, Heather Wachtel

Abstract
Paired DNA and RNA genetic testing improves variant detection and classification independently of personal history of cancer

Oncology

Date:
Monday, Oct 18, 2021 12:00am – 12:00pm

Conference:
ASHG 2021

Authors:
Sarah Campian, Rachid Karam, PhD, Elizabeth Chao, Carrie Horton, Kelly Burgess, Jessica Profato, Robert Pilarski, Holly Laduca, Parichehr Hemyari, Heather Zimmerman

Poster
Ongoing clinical validity assessment leads to efficient genetic test development for patients with movement disorders and hypotonia

Neurology

Date:
Wednesday, Sep 22, 2021 12:00am – 12:00pm

Conference:
NSGC 2021

Authors:
Devon Lamb Thrush, Bess Wayburn, Deepali Shinde, Kelly Hagman, MS, CGC, LGC, Kelly Radtke, Meghan C. Towne, Haley Keller, Jeffrey Kopesky, Ryan Miller, Benjamin Feldmann

Abstract
More than 95% of positive genetic results for inherited cardiomyopathies and arrhythmias have medical management implications

Cardiology

Date:
Wednesday, Sep 22, 2021 12:00am – 12:00pm

Conference:
NSGC 2021

Authors:
Meghan Towne, Catherine Schultz, Carrie Milliard, Melissa Holman, Tami Johnston, Christian Antolik

Abstract
Clinical characteristics of patients with hereditary transthyretin mutations primarily associated with cardiomyopathy and other rare transthyretin mutations: Insights from a genetic testing programme

Cardiology

Date:
Friday, Aug 27, 2021 12:00am – 12:00pm

Conference:
ESC 2021

Authors:
Meghan Towne, Andrew Keller, Keyur Shah, Diego Delgado, Ajay Vallakati, Olakunle Akinboboye, Kemi Olugemo, Arvind Narayana

Collaborators:

Akcea Therapeutics
Ohio State University (OSU)
University Health Network

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Expanding cohort of individuals with p.V142I homozygous alterations suggests presentation onset similar to heterozygotes

Inequitable access to genetic testing leads to missed screening and prevention opportunities for individuals at risk for hereditary breast and ovarian cancer

Pathogenic variants among female breast cancer patients with a subsequent cancer demonstrate preventable cancer burden

Comparison of colorectal cancer patients with Lynch Syndrome, double somatic mutations, and MLH1 promoter hypermethylation

N-terminal truncating variants in APC in tatients without overt Familial Adenomatous Polyposis

Succinate dehydrogenase pathogenic variants are not associated with non-canonical cancers

Paired DNA and RNA genetic testing improves variant detection and classification independently of personal history of cancer

Ongoing clinical validity assessment leads to efficient genetic test development for patients with movement disorders and hypotonia

More than 95% of positive genetic results for inherited cardiomyopathies and arrhythmias have medical management implications

Clinical characteristics of patients with hereditary transthyretin mutations primarily associated with cardiomyopathy and other rare transthyretin mutations: Insights from a genetic testing programme

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