Publications – Ambry Genetics

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Oncology

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Date: July 19, 2023

Authors:
Lenka Stolarova, Petra Kleiblova, Petra Zemankova, Barbora Stastna, Marketa Janatova, …

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Journal Volume: 29

Topics:

Gene Characterization
Phenotype Characterization
Variant Assess. & Interpretation

Collaborators:

American Cancer Society
ASST Spedali Civili of Brescia
Athens Medical Center
Boston University
Catalan Institution for Research and Advanced Studies
Centro de Investigación Biomédica en Red de Cáncer
Centro de Investigacion Biomedica en Red de Enfermedades Raras
Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
City of Hope
Cyprus Institute of Neurology and Genetics
Duke-NUS Medical School
European Institute of Oncology, IRCCS
Fundación Pública Galega de Medicina Xenómica
Ghent University
H. Lee Moffitt Cancer Center and Research Institute
Harvard University
Hospital Sirio-Libanes
Institute of Molecular Genetics of the Czech Academy of Sciences
Istituto Nazionale dei Tumori
Leipzig University
Maastricht University Medical Center
Mayo Clinic
Modena University Hospital
Nanyang Technological University
Natera
National Cancer Centre Singapore
National Center for Scientific Research "Demokritos"
Normandy Centre for Genomic and Personalized Medicine
Northshore University Health System
Ohio State University (OSU)
Peter MacCallum Cancer Centre and Royal Melbourne Hospital
QIMR Berghofer Medical Research Institute
RIKEN Center for Integrative Medical Sciences
Roswell Park Comprehensive Cancer Center
San Raffaele Scientific Institute (IRCCS)
Schneider Children’s Medical Center of Israel Institute of Human Genetics, University of Ulm, Germany
The University of Texas MD Anderson Cancer Center
University Hospital Hamburg-Eppendorf
University of Bari
University of Brescia
University of Cologne
University of Helsinki
University of Manchester
University of Melbourne
University of Pennsylvania
University of Rome 'Sapienza'
University of Siena
University of Southern California
University of Tokyo
University of Turin
University of Washington
University of Wisconsin – Madison
Veneto Institute of Oncology
WHI

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Oncology

NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects

Date: July 11, 2023

Authors:
Sami Belhadj, Aliya Khurram, Chaitanya Bandlamudi, Guillermo Palou-Márquez, Vignesh Ravichandran, …

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Journal Volume: 29

Topics:

Gene Characterization
Phenotype Characterization

Collaborators:

Barcelona institute for Science and Technology
Catalan Institution for Research and Advanced Studies
Mayo Clinic
Memorial Sloan Kettering Cancer Center
University of Pennsylvania
Weill Cornell

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