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Oncology

A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers

Date: June 23, 2023

Authors:
Jacquelyn Powers, Emilia M Pinto, Thibaut Barnoud, Jessica C Leung, Tetyana Martynyuk, …

Journal: Cancer Research

Journal Volume: 80

Topics:

Variant Assess. & Interpretation

Collaborators:

City of Hope
Dana Farber Cancer Institute
Femme Mère Enfant Hospital
Mayo Clinic
MD Anderson Cancer Center at Cooper
Memorial Sloan Kettering Cancer Center
Perelman School of Medicine at the University of Pennsylvania
St. Jude Children's Research Hospital
Stanford
University of Pennsylvania
Wistar Institute

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General

Massive macroglossia, a rare side effect of COVID-19: clinical, histologic, and genomic findings in COVID-19-positive versus COVID-19-negative patients

Date: June 23, 2023

Authors:
Victoria A Mañón, David Chubb, Laura S Farach, Rachid Karam, PhD, Mary C Farach-Carson, …

Journal: Oral and maxillofacial surgery

Journal Volume: 26

Topics:

Rare Disease

Collaborators:

University of Texas Health Science Center at Houston

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Oncology

A founder CHEK2 pathogenic variant in association with kidney cancer

Date: June 23, 2023

Authors:
Kassi Brooks, Melissa Holman, Catherine Steding, Megan Tucker

Journal: Cancer Genetics

Topics:

Gene Characterization
Phenotype Characterization

Collaborators:

Indiana State University

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Neurology

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

Date: June 22, 2023

Authors:
Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H Harr, …

Journal: HGG Advances

Journal Volume: 2

Topics:

Gene Characterization
Phenotype Characterization

Collaborators:

Children's Hospital of Philadelphia
Donders Institute for Brain
Geisinger Health System
GeneDx
Genetics Research Center University of Social Welfare and Rehabilitation Sciences
Max Planck Institute for Molecular GeneticsIhnestr
Nicklaus Children's Hospital
University Medical Centre Ljubljana
Weill Cornell

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Oncology

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

Date: June 22, 2023

Authors:
Cristina Fortuno, Jessica Mester, Tina Pesaran, MA, MS, CGC, Jeffrey N Weitzel, Jill Dolinsky, …

Journal: Human Mutation

Journal Volume: 41

Topics:

Gene Characterization
Phenotype Characterization
Variant Assess. & Interpretation

Collaborators:

City of Hope
Dana Farber Cancer Institute
GeneDx
General University Hospital in Prague
Hospital Sirio-Libanes
Huntsman Cancer Institute
National Cancer Institute, Clinical Genetics Branch
Peter MacCallum Cancer Centre and Royal Melbourne Hospital
QIMR Berghofer Medical Research Institute
University of Manchester
University of Pennsylvania

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Oncology

Germline pathogenic SMARCA4 variants in neuroblastoma

Date: June 21, 2023

Authors:
Leora Witkowski, Kim E Nichols, Marjolijn Jongmans, Nienke van Engelen, Ronald R de Krijger, …

Journal: Journal of Medical Genetics

Journal Volume: 22

Topics:

Gene Characterization
Phenotype Characterization

Collaborators:

Baylor College of Medicine
Emory University
General University Hospital in Prague
Invitae Corporation
McGill University
McGill University Health Center
Princess Maxima Center for Pediatric Oncology
QIMR Berghofer Medical Research Institute
Sir Mortimer B Davis Jewish General Hospital
The University of Queensland
University Hospital Münster
University Medical Center Utrecht

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Oncology

Breast cancer polygenic risk scores in the clinical cancer genetic counseling setting: Current practices and impact on patient management

Date: June 21, 2023

Authors:
Molly McGuinness, Emily Fassi, Catharine Wang, Claire Hacking, Victoria Ellis

Journal: Journal of Genetic Counseling

Journal Volume: 30

Collaborators:

Boston University
St. Luke's Cancer Institute

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Oncology

Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53

Date: June 21, 2023

Authors:
Cristina Fortuno, Tina Pesaran, MA, MS, CGC, Jill Dolinsky, Amal F. Yussuf, Kelly McGoldrick, …

Journal: Human Mutation

Journal Volume: 41

Collaborators:

Austin Hospital and Royal Melbourne Hospital
QIMR Berghofer Medical Research Institute

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Clinical Genomics
Neurology

Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability

Date: June 21, 2023

Authors:
Aguan D Wei, Paul Wakenight, Theresa A Zwingman, Angela M Bard, Nikhil Sahai, …

Journal: Journal of neurophysiology

Journal Volume: 28

Topics:

Gene Characterization
Phenotype Characterization

Collaborators:

Academic Centre for Epileptology Kempenhaeghe
Amphia Hospital
Center for Genetic Medicine, Northwestern University
Cook Children's Medical Center
Erasmus Medical Centre
Femme Mère Enfant Hospital
Human Genetics Department, Radboud University Medical Center
Maastricht University Medical Center
Seattle Children's Research Institute
Stanley Manne Children's Research Institute, affiliated with Ann & Robert H. Lurie Children's Hospital of Chicago
University of Texas Health Science Center at Houston
University of Washington

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Clinical Genomics
Neurology

Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant

Date: June 21, 2023

Authors:
Yash B Shah, Ping Lin, Stone Chen, Alan Zheng, Wendy A. Alcaraz, …

Journal: British journal of haematology

Journal Volume: 200

Topics:

Gene Characterization
Phenotype Characterization

Collaborators:

Children's Hospital of Philadelphia
Hospital of the University of Pennsylvania
Thomas Jefferson University
University of Pennsylvania

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