Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma
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A. Goldenberg | J. Khan | Jun S. Wei | S. Tavtigian | J. Schiffman | Nicholas Light | A. Shlien | K. Jones | S. Skapek | D. Hawkins | D. Malkin | Xinyu Wen | Jung Kim | T. Wegman-Ostrosky | R. Patidar | D. Barkauskas | D. Stewart | Mingyi Wang | P. Lupo | D. Catchpoole | E. Young | F. Telfer | Dongjing Wu | David Hall | V. Subasri | Luke D Maese | Cancer Genome Research Laboratory | Vallijah Subasri
[1] J. Biegel,et al. Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant. , 2019, Cancer genetics.
[2] S. Puig,et al. Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls , 2018, Genome Medicine.
[3] James R. Anderson,et al. Addition of Vincristine and Irinotecan to Vincristine, Dactinomycin, and Cyclophosphamide Does Not Improve Outcome for Intermediate-Risk Rhabdomyosarcoma: A Report From the Children's Oncology Group. , 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[4] Michael C. Heinold,et al. The landscape of genomic alterations across childhood cancers , 2018, Nature.
[5] Gretchen M. Williams,et al. DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies , 2018, Clinical Cancer Research.
[6] Chunlei Liu,et al. ClinVar: improving access to variant interpretations and supporting evidence , 2017, Nucleic Acids Res..
[7] R. Hung,et al. Second malignant neoplasms after childhood non-central nervous system embryonal tumours in North America: A population-based study. , 2017, European journal of cancer.
[8] P. Kantoff,et al. Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing , 2017, JAMA.
[9] Ryan E. Mills,et al. The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology , 2017, Genome research.
[10] Quan Li,et al. InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. , 2017, American journal of human genetics.
[11] W. Chung,et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics , 2016, Genetics in Medicine.
[12] S. Bojesen,et al. Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study. , 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[13] Tao Wang,et al. Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. , 2016, JAMA oncology.
[14] Xiaoyu Chen,et al. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications , 2016, Bioinform..
[15] Li Ding,et al. Germline Mutations in Predisposition Genes in Pediatric Cancer. , 2015, The New England journal of medicine.
[16] M. Hatley,et al. Probing for a deeper understanding of rhabdomyosarcoma: insights from complementary model systems , 2015, Nature Reviews Cancer.
[17] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[18] S. Altekruse,et al. Declining childhood and adolescent cancer mortality , 2014, Cancer.
[19] Daniela Egas-Bejar,et al. Rhabdomyosarcoma in adolescent and young adult patients: current perspectives , 2014, Adolescent health, medicine and therapeutics.
[20] G. Getz,et al. Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors. , 2014, Cancer discovery.
[21] C. Fletcher,et al. WHO classification of soft tissue tumours: an update based on the 2013 (4th) edition , 2014, Pathology.
[22] Nazneen Rahman,et al. Realizing the promise of cancer predisposition genes , 2014, Nature.
[23] Heather L. Mulder,et al. Targeting oxidative stress in embryonal rhabdomyosarcoma. , 2013, Cancer cell.
[24] M. Mura,et al. XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. , 2013, Human molecular genetics.
[25] Sikandar G. Khan,et al. Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum , 2012, European Journal of Human Genetics.
[26] V. Beneš,et al. DELLY: structural variant discovery by integrated paired-end and split-read analysis , 2012, Bioinform..
[27] Mark Stitt,et al. RobiNA: a user-friendly, integrated software solution for RNA-Seq-based transcriptomics , 2012, Nucleic Acids Res..
[28] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[29] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[30] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[31] Aaron R. Quinlan,et al. BIOINFORMATICS APPLICATIONS NOTE , 2022 .
[32] S. Ognjanovic,et al. Trends in childhood rhabdomyosarcoma incidence and survival in the United States, 1975‐2005 , 2009, Cancer.
[33] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[34] Å. Borg,et al. Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes , 2008, Familial Cancer.
[35] K. Nathanson,et al. Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic , 2006, Cancer biology & therapy.
[36] W. Meyer,et al. Rhabdomyosarcoma: new windows of opportunity. , 2005, The oncologist.
[37] P. Stenson,et al. Human Gene Mutation Database (HGMD®): 2003 update , 2003, Human mutation.
[38] P. Donnelly,et al. Inference of population structure using multilocus genotype data. , 2000, Genetics.
[39] L. Thompson,et al. Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. , 1995, Cancer research.
[40] R. Ojo,et al. Pediatric rhabdomyosarcoma. , 2014, Ear, nose, & throat journal.