ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants-Reference-Cited by-同舟云学术

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Published:2019-10-16 Issue:20 Volume:3 Page:2962-2979
ISSN:2473-9529
Container-title:Blood Advances
language:en
Short-container-title:

Author:

Luo Xi¹,Feurstein Simone²,Mohan Shruthi³^ORCID,Porter Christopher C.⁴^ORCID,Jackson Sarah A.⁵,Keel Sioban⁶,Chicka Michael⁷,Brown Anna L.⁸^ORCID,Kesserwan Chimene⁹^ORCID,Agarwal Anupriya¹⁰,Luo Minjie¹¹^ORCID,Li Zejuan¹²¹³,Ross Justyne E.³^ORCID,Baliakas Panagiotis¹⁴,Pineda-Alvarez Daniel¹⁵,DiNardo Courtney D.¹⁶^ORCID,Bertuch Alison A.¹^ORCID,Mehta Nikita¹⁷^ORCID,Vulliamy Tom¹⁸,Wang Ying¹⁹,Nichols Kim E.⁹^ORCID,Malcovati Luca²⁰,Walsh Michael F.²¹,Rawlings Lesley H.²²,McWeeney Shannon K.²³,Soulier Jean²⁴^ORCID,Raimbault Anna²⁴^ORCID,Routbort Mark J.²⁵^ORCID,Zhang Liying²⁶^ORCID,Ryan Gabriella²⁷,Speck Nancy A.²⁸^ORCID,Plon Sharon E.¹^ORCID,Wu David²⁹^ORCID,Godley Lucy A.²^ORCID

Affiliation:

1. Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX;

2. Section of Hematology/Oncology and Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL;

3. Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC;

4. Department of Pediatrics, Emory University School of Medicine, Atlanta, GA;

5. GeneDx, Gaithersburg, MD;

6. Division of Hematology, Department of Medicine, University of Washington, Seattle, WA;

7. PreventionGenetics, Marshfield, WI;

8. Centre for Cancer Biology, SA Pathology & University of South Australia, Adelaide, Australia;

9. Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN;

10. Knight Cancer Institute, Oregon Health & Science University, Portland, OR;

11. Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA;

12. Department of Pathology and Genomic Medicine, Houston Methodist Research Institute and Houston Methodist Hospital, Houston, TX;

13. Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY;

14. Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden;

15. Invitae, San Francisco, CA;

16. Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX;

17. Hematopathology Division, Department of Laboratory Medicine & Pathology, Mayo Clinic, Rochester, MN;

18. Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University London, London, United Kingdom;

19. Department of Pathology and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD;

20. Department of Molecular Medicine, University of Pavia and Istituto di Ricovero e Cura a Carattere Scientifico Policlinico S. Matteo Foundation, Pavia, Italy;

21. Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY;

22. Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia;

23. Division of Biostatistics, Department of Public Health and Preventive Medicine, Oregon Health & Science University, Portland, OR;

24. INSERM/CNRS U944/7212, Université de Paris and Hematology Laboratory Assistance Publique–Hôpitaux de Paris, Hôpital Saint-Louis, Paris, France;

25. Department of Hematopathology, University of Texas MD Anderson Cancer Center, Houston, TX;

26. Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY;

27. Department of Scientific Affairs, American Society of Hematology, Washington, DC;

28. Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; and

29. Department of Laboratory Medicine, University of Washington, Seattle, WA

Abstract

Key Points The ClinGen MM-VCEP has specified RUNX1-specific curation rules to address gene function, gene-specific domains, and phenotypic criteria. RUNX1-specific criteria resulted in a reduction in CONF and VUS variants by 33%, emphasizing the need for expert variant curation.

Publisher

American Society of Hematology

Subject

Hematology

Link

http://ashpublications.org/bloodadvances/article-pdf/3/20/2962/1248654/advancesadv2019000644.pdf

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