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

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

Luo, Xi (författare): Baylor Coll Med, Dept Pediat Hematol Oncol, Houston, TX 77030 USA,Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX;

Feurstein, Simone (författare): Univ Chicago, Sect Hematol Oncol, Chicago, IL 60637 USA;Univ Chicago, Ctr Clin Canc Genet, Chicago, IL 60637 USA,Section of Hematology/Oncology and Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL;

Mohan, Shruthi (författare): Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC 27515 USA,Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC;

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Porter, Christopher C. (författare): Emory Univ, Sch Med, Dept Pediat, Atlanta, GA USA,Department of Pediatrics, Emory University School of Medicine, Atlanta, GA;

Jackson, Sarah A. (författare): GeneDx, Gaithersburg, MD USA,Knight Cancer Institute, Oregon Health & Science University, Portland, OR;

Keel, Sioban (författare): Univ Washington, Dept Med, Div Hematol, Seattle, WA 98195 USA,Division of Hematology, Department of Medicine, University of Washington, Seattle, WA;

Chicka, Michael (författare): PreventionGenetics, Marshfield, WI USA

Brown, Anna L. (författare): SA Pathol, Ctr Canc Biol, Adelaide, SA, Australia;Univ South Australia, Adelaide, SA, Australia,Centre for Cancer Biology, SA Pathology & University of South Australia, Adelaide, Australia;

Kesserwan, Chimene (författare): St Jude Childrens Res Hosp, Dept Oncol, 332 N Lauderdale St, Memphis, TN 38105 USA,Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN;

Agarwal, Anupriya (författare): Oregon Hlth & Sci Univ, Knight Canc Inst, Portland, OR 97201 USA,Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX;,Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; and,Section of Hematology/Oncology and Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL;

Luo, Minjie (författare): Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA,Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA;

Li, Zejuan (författare): Houston Methodist Res Inst, Dept Pathol & Genom Med, Houston, TX USA;Houston Methodist Hosp, Houston, TX 77030 USA;Weill Cornell Med Coll, Dept Pathol & Lab Med, New York, NY USA,Department of Pathology and Genomic Medicine, Houston Methodist Research Institute and Houston Methodist Hospital, Houston, TX;;Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY;

Ross, Justyne E. (författare): Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC 27515 USA,Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC;

Baliakas, Panagiotis, 1977- (författare): Uppsala universitet,Science for Life Laboratory, SciLifeLab,Experimentell och klinisk onkologi,Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden;

Pineda-Alvarez, Daniel (författare): Invitae, San Francisco, CA USA

DiNardo, Courtney D. (författare): Univ Texas MD Anderson Canc Ctr, Dept Leukemia, Houston, TX 77030 USA,Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX;

Bertuch, Alison A. (författare): Baylor Coll Med, Dept Pediat Hematol Oncol, Houston, TX 77030 USA

Mehta, Nikita (författare): Mayo Clin, Dept Lab Med & Pathol, Hematopathol Div, Rochester, MN USA,Hematopathology Division, Department of Laboratory Medicine & Pathology, Mayo Clinic, Rochester, MN;

Vulliamy, Tom (författare): Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, London, England,Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University London, London, United Kingdom;

Wang, Ying (författare): Johns Hopkins Univ, Sch Med, Dept Pathol & Genet Med, Baltimore, MD USA,Department of Pathology and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD;

Nichols, Kim E. (författare): St Jude Childrens Res Hosp, Dept Oncol, 332 N Lauderdale St, Memphis, TN 38105 USA,Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN;

Malcovati, Luca (författare): Univ Pavia, Dept Mol Med, Pavia, Italy;Ist Ric & Cura Carattere Sci Policlin S Matteo Fd, Pavia, Italy,Department of Molecular Medicine, University of Pavia and Istituto di Ricovero e Cura a Carattere Scientifico Policlinico S. Matteo Foundation, Pavia, Italy;

Walsh, Michael F. (författare): Mem Sloan Kettering Canc Ctr, Dept Pediat, 1275 York Ave, New York, NY 10021 USA,Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY;

Rawlings, Lesley H. (författare): SA Pathol, Dept Genet & Mol Pathol, Adelaide, SA, Australia,Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia;

McWeeney, Shannon K. (författare): Oregon Hlth & Sci Univ, Dept Publ Hlth & Prevent Med, Div Biostat, Portland, OR 97201 USA,Division of Biostatistics, Department of Public Health and Preventive Medicine, Oregon Health & Science University, Portland, OR;

Soulier, Jean (författare): Univ Paris, INSERM, CNRS, U944 7212, Paris, France;Hop St Louis, AP HP, Hematol Lab, Paris, France,INSERM/CNRS U944/7212, Université de Paris and Hematology Laboratory Assistance Publique–Hôpitaux de Paris, Hôpital Saint-Louis, Paris, France;

Raimbault, Anna (författare): Univ Paris, INSERM, CNRS, U944 7212, Paris, France;Hop St Louis, AP HP, Hematol Lab, Paris, France,INSERM/CNRS U944/7212, Université de Paris and Hematology Laboratory Assistance Publique–Hôpitaux de Paris, Hôpital Saint-Louis, Paris, France;

Routbort, Mark J. (författare): Univ Texas MD Anderson Canc Ctr, Dept Hematopathol, Houston, TX 77030 USA,Department of Hematopathology, University of Texas MD Anderson Cancer Center, Houston, TX;

Zhang, Liying (författare): Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA,Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY;

Ryan, Gabriella (författare): Amer Soc Hematol, Dept Sci Affairs, Washington, DC USA,Department of Scientific Affairs, American Society of Hematology, Washington, DC;

Speck, Nancy A. (författare): Univ Penn, Perelman Sch Med, Dept Cell & Dev Biol, Philadelphia, PA 19104 USA

Plon, Sharon E. (författare): Baylor Coll Med, Dept Pediat Hematol Oncol, Houston, TX 77030 USA,Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX;

Wu, David (författare): Univ Washington, Dept Lab Med, Seattle, WA 98195 USA,Department of Laboratory Medicine, University of Washington, Seattle, WA

Godley, Lucy A. (författare): Univ Chicago, Sect Hematol Oncol, Chicago, IL 60637 USA;Univ Chicago, Ctr Clin Canc Genet, Chicago, IL 60637 USA

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(creator_code:org_t)

2019-10-16
2019
Engelska.
Ingår i: Blood Advances. - : AMER SOC HEMATOLOGY. - 2473-9529 .- 2473-9537. ; 3:20, s. 2962-2979

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Tidskriftsartikel (refereegranskat)

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Standardized variant curation is essential for clinical care recommendations for patients with inherited disorders. Clinical Genome Resource (ClinGen) variant curation expert panels are developing disease-associated gene specifications using the 2015 American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines to reduce curation discrepancies. The ClinGen Myeloid Malignancy Variant Curation Expert Panel (MM-VCEP) was created collaboratively between the American Society of Hematology and ClinGen to perform gene- and disease-specific modifications for inherited myeloid malignancies. The MM-VCEP began optimizing ACMG/AMP rules for RUNX1 because many germline variants have been described in patients with familial platelet disorder with a predisposition to acute myeloid leukemia, characterized by thrombocytopenia, platelet functional/ultrastructural defects, and a predisposition to hematologic malignancies. The 28 ACMG/AMP codes were tailored for RUNX1 variants by modifying gene/disease specifications, incorporating strength adjustments of existing rules, or both. Key specifications included calculation of minor allele frequency thresholds, formulating a semi-quantitative approach to counting multiple independent variant occurrences, identifying functional domains and mutational hotspots, establishing functional assay thresholds, and characterizing phenotype-specific guidelines. Preliminary rules were tested by using a pilot set of 52 variants; among these, 50 were previously classified as benign/likely benign, pathogenic/likely pathogenic, variant of unknown significance (VUS), or conflicting interpretations (CONF) in ClinVar. The application of RUNX1-specific criteria resulted in a reduction in CONF and VUS variants by 33%, emphasizing the benefit of gene-specific criteria and sharing internal laboratory data.

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

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