Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. - Wikidata - awgldk - TriplyDB

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

http://www.wikidata.org/entity/Q41783629

about

Advances in sarcoma diagnostics and treatment Molecular Diagnostics for Precision Medicine in Colorectal Cancer: Current Status and Future Perspective A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr.Somatic cancer variant curation and harmonization through consensus minimum variant level data Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle.Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings Cancer diagnostics: The journey from histomorphology to molecular profiling.An update on genomic-guided therapies for pediatric solid tumors.Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.The future of clinical cancer genomics.Precision medicine in pediatric oncology: Lessons learned and next steps.Patient/parent perspectives on genomic tumor profiling of pediatric solid tumors: The Individualized Cancer Therapy (iCat) experience.Sequencing-based diagnostics for pediatric genetic diseases: progress and potential Family-Specific Variants and the Limits of Human Genetics.Ethical considerations surrounding germline next-generation sequencing of children with cancer.ZO-2, a tight junction protein involved in gene expression, proliferation, apoptosis, and cell size regulation.The fuzzy world of precision medicine: deliberations of a precision medicine tumor board.Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.ARID1B alterations identify aggressive tumors in neuroblastoma.A primer to clinical genome sequencing How do providers discuss the results of pediatric exome sequencing with families?Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.Importance of updating family cancer history in childhood cancer survivors.Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.Identification of NTRK fusions in pediatric mesenchymal tumors.Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care.ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research.Whole exome sequencing identified sixty-five coding mutations in four neuroblastoma tumors.The impact of hereditary cancer gene panels on clinical care and lessons learned.Interactive or static reports to guide clinical interpretation of cancer genomics.Blood-brain barrier-adapted precision medicine therapy for pediatric brain tumors.Development of the CNS TAP tool for the selection of precision medicine therapies in neuro-oncology.Precision medicine in pediatric oncology.Emerging Opportunities for Target Discovery in Rare Cancers.Integrative clinical genomics of metastatic cancer.

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Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

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JAMAONCOL.2015.5699

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Abhishek Bavle

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Adekunle M Adesina

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Andrea K Petersen

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Andrew Jea

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Angshumoy Roy

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Carrie A Mohila

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Christine M Eng

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D Williams Parsons

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David A Wheeler

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Dolores H López-Terrada

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P2860

Cancer genome landscapes

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma

Genome sequencing identifies a basis for everolimus sensitivity

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

Integrative genomics viewer

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.

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10.1001/JAMAONCOL.2015.5699

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