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Akademický článek

Prevalence of lung cysts in adolescents and adults with a germline DICER1 pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/ DICER1 Registry.

Autor: Nelson AT; University of Minnesota Medical School, Minneapolis, Minnesota, USA.; International Pleuropulomary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, Minnesota, USA.; International Ovarian and Testicular Stromal Tumor Registry, Children's Minnesota, Minneapolis, Minnesota, USA.; Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota, USA., Vasta LM; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Watson D; Research Institute, Children's Minnesota, Minneapolis, Minnesota, USA., Kim J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Harris AK; International Pleuropulomary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, Minnesota, USA.; International Ovarian and Testicular Stromal Tumor Registry, Children's Minnesota, Minneapolis, Minnesota, USA.; Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota, USA., Best AF; Biometric Research Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA., Harney LA; Westat Inc, Rockville, Maryland, USA., Carr AG; Westat Inc, Rockville, Maryland, USA., Frederickson N; International Pleuropulomary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, Minnesota, USA.; International Ovarian and Testicular Stromal Tumor Registry, Children's Minnesota, Minneapolis, Minnesota, USA.; Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota, USA., Dehner LP; Lauren V. Ackerman Laboratory of Surgical Pathology, Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USA., Kratz CP; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Niedersachsen, Germany., Hagedorn KN; Department of Radiology, Children's Minnesota, Minneapolis, Minnesota, USA., Mize WA; Department of Radiology, Children's Minnesota, Minneapolis, Minnesota, USA., Ling A; Department of Radiology, NIH Clinical Center, Bethesda, Maryland, USA., Messinger YH; International Pleuropulomary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, Minnesota, USA.; International Ovarian and Testicular Stromal Tumor Registry, Children's Minnesota, Minneapolis, Minnesota, USA.; Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota, USA., Hill DA; Lauren V. Ackerman Laboratory of Surgical Pathology, Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USA.; ResourcePath LLC, Sterling, Virginia, USA., Schultz KAP; International Pleuropulomary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, Minnesota, USA krisann.schultz@childrensmn.org.; International Ovarian and Testicular Stromal Tumor Registry, Children's Minnesota, Minneapolis, Minnesota, USA.; Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota, USA., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.

Publikováno v: Thorax [Thorax] 2024 Jun 14; Vol. 79 (7), pp. 644-651. Date of Electronic Publication: 2024 Jun 14.

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Akademický článek

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

Autor: Hatton JN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Cox HC; PreventionGenetics LLC, Marshfield, Wisconsin, USA., Crowley SB; Invitae Corporation, San Francisco, California, USA., Hiraki S; GeneDx, Gaithersburg, Maryland, USA., Yokoyama NN; Ambry Genetics, Aliso Viejo, California, USA., Abul-Husn NS; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Amatruda JF; Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Anderson MJ; Invitae Corporation, San Francisco, California, USA., Bofill-De Ros X; RNA Biology Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA., Carr AG; Weststat, Inc, Rockville, Maryland, USA., Chao EC; Ambry Genetics, Aliso Viejo, California, USA.; Division of Genetics and Genomics, Department of Pediatrics, University of California, Irvine, California, USA., Chen KS; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Gu S; RNA Biology Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA., Higgs C; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Machado J; Exact Sciences Laboratories, Madison, Wisconsin, USA., Ritter D; Baylor College of Medicine, Houston, Texas, USA., Schultz KA; Cancer and Blood Disorders, Children's Minnesota, International Pleuropulmonary Blastoma/DICER1 Registry, Minneapolis, Minnesota, USA., Soper ER; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Wu MK; Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Mester JL; GeneDx, Gaithersburg, Maryland, USA., Kim J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Foulkes WD; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Witkowski L; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.

Publikováno v: Human mutation [Hum Mutat] 2023; Vol. 2023. Date of Electronic Publication: 2023 Mar 29.

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Akademický článek

Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.

Autor: Golmard L; Department of Genetics, PSL Research University, Institut Curie, Paris, France lisa.golmard@curie.fr., Vasta LM; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.; National Capital Consortium, Walter Reed National Military Medical Center, Bethesda, Maryland, USA., Duflos V; Department of Pediatric Oncology, University Hospital Centre Montpellier, Montpellier, France., Corsini C; Department of Genetics, University Hospital Centre Montpellier, Montpellier, France., Dubois d'Enghien C; Department of Genetics, PSL Research University, Institut Curie, Paris, France., McMaster ML; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Harney LA; Westat, Rockville, Maryland, USA., Carr AG; Westat, Rockville, Maryland, USA., Ling A; NIH Clinical Center, Bethesda, Maryland, USA., Dijoud F; Department of Pathology, Centre de Pathologie Est, Hospices Civils de Lyon, Bron, France., Gauthier A; Department of Pathology, PSL Research University, Institut Curie, Paris, Île-de-France, France., Miettinen M; Laboratory of Pathology, Center for Cancer Research, Bethesda, Maryland, USA., Cost NG; Department of Surgery, Division of Urology, Pediatric Urology and Urologic Oncology, Department of Pediatrics, Section of Hematology and Oncology, Pediatric Oncology, University of Colorado School of Medicine, Aurora, Colorado, USA., Gauthier-Villars M; Department of Genetics, PSL Research University, Institut Curie, Paris, France., Orbach D; SIREDO Oncology Center, PSL Research University, Institut Curie, Paris, Île-de-France, France., Irtan S; Trousseau Hospital, Department of Pediatric Surgery, AP-HP, Paris, Île-de-France, France., Haouy S; Department of Pediatric Oncology, University Hospital Centre Montpellier, Montpellier, France., Schultz KA; Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota, USA., Stoppa-Lyonnet D; Department of Genetics, INSERM U830, Institut Curie, Paris, Île-de-France, France.; Paris University, Paris, Île-de-France, France., Coupier I; Department of Genetics, University Hospital Centre Montpellier, Montpellier, France., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Sirvent N; Pediatric Oncology and Hematology Department, University Hospital Centre Montpellier, Montpellier, France.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Apr; Vol. 59 (4), pp. 346-350. Date of Electronic Publication: 2021 Mar 29.

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