Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

Xi Luo; Jamie L Maciaszek; Bryony A Thompson; Huei San Leong; Katherine Dixon; Sónia Sousa; Michael Anderson; Maegan E Roberts; Kristy Lee; Amanda B Spurdle; Arjen R Mensenkamp; Terra Brannan; Carolina Pardo; Liying Zhang; Tina Pesaran; Sainan Wei; Grace-Ann Fasaye; Chimene Kesserwan; Brian H Shirts; Jeremy L Davis; Carla Oliveira; Sharon E Plon; Kasmintan A Schrader; Rachid Karam

doi:10.1136/jmg-2022-108807

Article info

Cancer genetics

Original research

Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

Authors

Xi Luo Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Jamie L Maciaszek Department of Pathology, St Jude Children's Research Hospital, Memphis, Tennessee, USA PubMed articles Google scholar articles
Bryony A Thompson Department of Pathology, Royal Melbourne Hospital, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Huei San Leong Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Katherine Dixon Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada PubMed articles Google scholar articles
Sónia Sousa Instituto de Investigação e Inovação em Saúde – (i3S), University of Porto, Porto, Portugal Institute of Molecular Pathology and Immunology - (IPATIMUP), University of Porto, Porto, Portugal PubMed articles Google scholar articles
Michael Anderson Invitae Corporation, San Francisco, California, USA PubMed articles Google scholar articles
Maegan E Roberts The Ohio State University, Columbus, Ohio, USA PubMed articles Google scholar articles
Kristy Lee Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA PubMed articles Google scholar articles
Amanda B Spurdle Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia PubMed articles Google scholar articles
Arjen R Mensenkamp Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articles Google scholar articles
Terra Brannan Ambry Genetics, Aliso Viejo, California, USA PubMed articles Google scholar articles
Carolina Pardo Invitae Corporation, San Francisco, California, USA PubMed articles Google scholar articles
Liying Zhang Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA PubMed articles Google scholar articles
Tina Pesaran Ambry Genetics, Aliso Viejo, California, USA PubMed articles Google scholar articles
Sainan Wei Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, Kentucky, USA PubMed articles Google scholar articles
Grace-Ann Fasaye Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Chimene Kesserwan National Institutes of Health, Bethesda, Maryland, USA PubMed articles Google scholar articles
Brian H Shirts Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Jeremy L Davis Surgical Oncology Program, National Cancer Institute, Bethesda, Maryland, USA PubMed articles Google scholar articles
Carla Oliveira Instituto de Investigação e Inovação em Saúde – (i3S), University of Porto, Porto, Portugal Institute of Molecular Pathology and Immunology - (IPATIMUP), University of Porto, Porto, Portugal Department of Pathology, University of Porto, Porto, Portugal PubMed articles Google scholar articles
Sharon E Plon Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Kasmintan A Schrader Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada Hereditary Cancer Program, BC Cancer, Vancouver, British Columbia, Canada PubMed articles Google scholar articles
Rachid Karam Ambry Genetics, Aliso Viejo, California, USA PubMed articles Google scholar articles
on behalf of the ClinGen CDH1 Variant Curation Expert Panel
Google scholar articles

Correspondence to Dr Rachid Karam, Ambry Genetics Corp, Aliso Viejo, California, USA; rkaram{at}ambrygen.com

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Citation

Luo X, Maciaszek JL, Thompson BA on behalf of the ClinGen CDH1 Variant Curation Expert Panel, et al

Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

Journal of Medical Genetics 2023;60:568-575.

Publication history

Received July 6, 2022
Accepted October 10, 2022
First published December 7, 2022.

Online issue publication

May 22, 2023

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