Joshua D Schiffman

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. doi request reprint Update on pediatric cancer predisposition syndromes
    Joshua D Schiffman
    Center for Children s Cancer Research and Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA
    Pediatr Blood Cancer 60:1247-52. 2013
  2. pmc The epidemiology of sarcoma
    Zachary Burningham
    Division of Pediatric Hematology Oncology, Center for Children s Cancer Research, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA
    Clin Sarcoma Res 2:14. 2012
  3. pmc Molecular inversion probes reveal patterns of 9p21 deletion and copy number aberrations in childhood leukemia
    Joshua D Schiffman
    Pediatric Hematology Oncology and Oncological Sciences, Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Room 4343, Salt Lake City, UT 84112
    Cancer Genet Cytogenet 193:9-18. 2009
  4. pmc Molecular inversion probe analysis detects novel copy number alterations in Ewing sarcoma
    Mona S Jahromi
    Center for Children s Cancer Research C3R, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA
    Cancer Genet 205:391-404. 2012
  5. pmc Oncogenic BRAF mutation with CDKN2A inactivation is characteristic of a subset of pediatric malignant astrocytomas
    Joshua D Schiffman
    Divison of Pediatric Hematology Oncology and Department of Oncological Sciences, University of Utah, Salt Lake City, Utah, USA
    Cancer Res 70:512-9. 2010
  6. pmc A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia
    Cammon B Arrington
    Department of Pediatrics Cardiology, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA
    Am J Med Genet A 158:3137-47. 2012
  7. doi request reprint TP53 pathway analysis in paediatric Burkitt lymphoma reveals increased MDM4 expression as the only TP53 pathway abnormality detected in a subset of cases
    Vasiliki Leventaki
    Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84112 0565, USA
    Br J Haematol 158:763-71. 2012
  8. pmc Complex genotype sarcomas display familial inheritance independent of known cancer predisposition syndromes
    Kevin B Jones
    Sarcoma Services, Department of Orthopaedics, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA
    Cancer Epidemiol Biomarkers Prev 20:751-7. 2011
  9. pmc The clone wars - revenge of the metastatic rogue state: the sarcoma paradigm
    Holly L Spraker
    Division of Pediatric Hematology Oncology, Primary Children s Medical Center, University of Utah Salt Lake City, UT, USA
    Front Oncol 2:2. 2012
  10. pmc At-risk populations for osteosarcoma: the syndromes and beyond
    George T Calvert
    Department of Orthopaedics and Huntsman Cancer Institute, The University of Utah, Salt Lake City, UT 84112, USA
    Sarcoma 2012:152382. 2012

Collaborators

Detail Information

Publications23

  1. doi request reprint Update on pediatric cancer predisposition syndromes
    Joshua D Schiffman
    Center for Children s Cancer Research and Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA
    Pediatr Blood Cancer 60:1247-52. 2013
    ..Finally, the perspective of a family with Li-Fraumeni Syndrome is shared...
  2. pmc The epidemiology of sarcoma
    Zachary Burningham
    Division of Pediatric Hematology Oncology, Center for Children s Cancer Research, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA
    Clin Sarcoma Res 2:14. 2012
    ..Future molecular epidemiology studies may increase our understanding of the genetic versus environmental contributions to tumorigenesis in this often deadly cancer in children and adults...
  3. pmc Molecular inversion probes reveal patterns of 9p21 deletion and copy number aberrations in childhood leukemia
    Joshua D Schiffman
    Pediatric Hematology Oncology and Oncological Sciences, Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Room 4343, Salt Lake City, UT 84112
    Cancer Genet Cytogenet 193:9-18. 2009
    ..MIPs represent an attractive technology for identifying novel copy number aberrations, validating previously reported copy number changes, and translating molecular findings into clinically relevant targets for further investigation...
  4. pmc Molecular inversion probe analysis detects novel copy number alterations in Ewing sarcoma
    Mona S Jahromi
    Center for Children s Cancer Research C3R, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA
    Cancer Genet 205:391-404. 2012
    ..CNAs detected by microarray correlate with outcome and may be useful for risk stratification in future clinical trials...
  5. pmc Oncogenic BRAF mutation with CDKN2A inactivation is characteristic of a subset of pediatric malignant astrocytomas
    Joshua D Schiffman
    Divison of Pediatric Hematology Oncology and Department of Oncological Sciences, University of Utah, Salt Lake City, Utah, USA
    Cancer Res 70:512-9. 2010
    ..Taken together, these findings highlight BRAF as a frequent mutation target in pediatric astrocytomas, with distinct types of BRAF alteration occurring in grade 1 versus grade 2 to 4 tumors...
  6. pmc A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia
    Cammon B Arrington
    Department of Pediatrics Cardiology, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA
    Am J Med Genet A 158:3137-47. 2012
    ..This approach could speed up the discovery of the genes and regulatory elements causing multifactorial diseases, such as isolated CDH...
  7. doi request reprint TP53 pathway analysis in paediatric Burkitt lymphoma reveals increased MDM4 expression as the only TP53 pathway abnormality detected in a subset of cases
    Vasiliki Leventaki
    Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84112 0565, USA
    Br J Haematol 158:763-71. 2012
    ..The TP53 pathway is deregulated in paediatric BL cases, and increased MDM4 expression may be the primary mechanism in some cases...
  8. pmc Complex genotype sarcomas display familial inheritance independent of known cancer predisposition syndromes
    Kevin B Jones
    Sarcoma Services, Department of Orthopaedics, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA
    Cancer Epidemiol Biomarkers Prev 20:751-7. 2011
    ..The low incidence of sarcomas in the general population makes heritable contribution to disease risk difficult to discern beyond highly penetrant Mendelian syndromes...
  9. pmc The clone wars - revenge of the metastatic rogue state: the sarcoma paradigm
    Holly L Spraker
    Division of Pediatric Hematology Oncology, Primary Children s Medical Center, University of Utah Salt Lake City, UT, USA
    Front Oncol 2:2. 2012
    ..These possibilities and the evidence base to support them are explored...
  10. pmc At-risk populations for osteosarcoma: the syndromes and beyond
    George T Calvert
    Department of Orthopaedics and Huntsman Cancer Institute, The University of Utah, Salt Lake City, UT 84112, USA
    Sarcoma 2012:152382. 2012
    ..This paper reviews the genetic and clinical features of the known osteosarcoma predisposition syndromes...
  11. doi request reprint Melanoma mimic: a case of multiple pagetoid Spitz nevi
    Kalynne Harris
    Department of Dermatology, University of Utah, Salt Lake City, UT 84112, USA
    Arch Dermatol 148:370-4. 2012
    ..Differentiating Spitz nevi from melanoma can be difficult. Pagetoid spread of melanocytes is among the features making diagnosis difficult. Rare reports of isolated pagetoid Spitz nevi exist...
  12. ncbi request reprint Of mice and men: opportunities to use genetically engineered mouse models of synovial sarcoma for preclinical cancer therapeutic evaluation
    Kevin B Jones
    Department of Orthopaedic Surgery, The Center for Children s Cancer Research, at the University of Utah, Salt Lake City, Utah, USA
    Cancer Control 18:196-203. 2011
    ..The biological differences between sarcoma subtypes make inclusion of multiple types in general trials unsatisfactory as well...
  13. pmc Potential for modulation of the fas apoptotic pathway by epidermal growth factor in sarcomas
    David E Joyner
    Department of Orthopaedics, Huntsman Cancer Institute, The University of Utah, Salt Lake City, UT 84112, USA
    Sarcoma 2011:847409. 2011
    ..Cells destined for elimination inhibit this prosurvival response via a presently undefined pathway. This scenario represents a novel role for EGF and CTGF as regulators of the Fas pathway in sarcomas...
  14. pmc EWS/FLI-responsive GGAA microsatellites exhibit polymorphic differences between European and African populations
    Robert Beck
    Center for Children s Cancer Research, Huntsman Cancer Institute, University of Utah, Salt Lake City, USA
    Cancer Genet 205:304-12. 2012
    ..These data suggest that GGAA microsatellite polymorphisms in the NR0B1 gene might influence disease susceptibility and prognosis in Ewing sarcoma in unanticipated ways...
  15. pmc Microsatellite instability in sarcoma: fact or fiction?
    Michael J Monument
    Sarcoma Services, Department of Orthopaedics, Huntsman Cancer Institute, University of Utah School of Medicine, 2000 Circle of Hope, Salt Lake City, UT 84112, USA
    ISRN Oncol 2012:473146. 2012
    ....
  16. ncbi request reprint Identification of a novel p53 in-frame deletion in a Li-Fraumeni-like family
    Joshua D Schiffman
    Division of Pediatric Hematology Oncology, Stanford University School of Medicine, Stanford, California 94304, USA
    Pediatr Blood Cancer 50:914-6. 2008
    ..The in-frame deletion we describe has not previously been reported and adds to our understanding of the biologic effects of p53 gene mutation in Li-Fraumeni syndrome (LFS)...
  17. pmc Genome wide copy number analysis of paediatric Burkitt lymphoma using formalin-fixed tissues reveals a subset with gain of chromosome 13q and corresponding miRNA over expression
    Joshua D Schiffman
    Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT 84112 0565, USA
    Br J Haematol 155:477-86. 2011
    ..These results demonstrate that high-resolution copy number analysis can be performed on archival lymphoma tissue specimens, which has significance for the study of rare diseases...
  18. pmc Succinate dehydrogenase - Assembly, regulation and role in human disease
    Jared Rutter
    Departments of Biochemistry, University of Utah School of Medicine, Salt Lake City, UT, United States
    Mitochondrion 10:393-401. 2010
    ..Mutations in these factors and in the structural subunits of the complex itself cause a variety of human diseases. The mechanisms underlying the pathogenesis of SDH mutations is beginning to be understood...
  19. doi request reprint SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
    Huai Xiang Hao
    Department of Biochemistry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
    Science 325:1139-42. 2009
    ..Thus, a mitochondrial proteomics analysis in yeast has led to the discovery of a human tumor susceptibility gene...
  20. doi request reprint Familial risk of childhood cancer and tumors in the li-fraumeni spectrum in the utah population database: Implications for genetic evaluation in pediatric practice
    Karen Curtin
    Huntsman Cancer Institute, University of Utah, Salt Lake City, UT Department of Internal Medicine, University of Utah, Salt Lake City, UT
    Int J Cancer 133:2444-53. 2013
    ..We encourage the collection of a family medical history that is routinely updated for all pediatric cancer patients, and that families with early-onset adult cancers or clusters of several cancers are referred for genetic counseling. ..
  21. doi request reprint Internet use among adolescent and young adults (AYA) with cancer
    Joshua D Schiffman
    Division of Pediatric Hematology Oncology, Stanford University School of Medicine, Palo Alto, California, USA
    Pediatr Blood Cancer 51:410-5. 2008
    ..The aims of this study were to describe (1) cancer-specific websites which AYA with cancer visit and (2) Internet features desired by AYA on cancer-specific websites and how many current AYA cancer websites contain these features...
  22. pmc Glutathione s-transferases in pediatric cancer
    Wen Luo
    The Department of Oncological Sciences, University of Utah School of Medicine Salt Lake City, UT, USA
    Front Oncol 1:39. 2011
    ..This mini review focuses on studies related to GST epidemiology and functions related to pediatric cancer. Opportunities to exploit GST in pediatric cancer therapy are also discussed...
  23. pmc Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping
    Jinchuan Xing
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Genomics 96:199-210. 2010
    ..We also found a substantial affinity between populations from central Asia (Kyrgyzstani and Mongolian Buryat) and America, suggesting a central Asian contribution to New World founder populations...