Genomes and Genes
Joshua D Schiffman
Affiliation: University of Utah
- Copy Number Alterations and Methylation in Ewing's SarcomaMona S Jahromi
Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, 2000 Circle of Hope, Salt Lake City, UT 84112, USA
Sarcoma 2011:362173. 2011..Future CNA and methylation studies will help to understand the molecular basis of this disease...
- Update on pediatric cancer predisposition syndromesJoshua 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...
- The epidemiology of sarcomaZachary 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...
- Molecular inversion probes reveal patterns of 9p21 deletion and copy number aberrations in childhood leukemiaJoshua 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...
- Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissueLeslie R Rowe
Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108 1221, USA
J Mol Diagn 15:466-72. 2013..This study highlights the benefits of using MIP array analysis for identification of genomic alterations in FFPE stillbirth autopsy tissue. ..
- Oncogenic BRAF mutation with CDKN2A inactivation is characteristic of a subset of pediatric malignant astrocytomasJoshua 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...
- Molecular inversion probe analysis detects novel copy number alterations in Ewing sarcomaMona 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...
- TP53 pathway analysis in paediatric Burkitt lymphoma reveals increased MDM4 expression as the only TP53 pathway abnormality detected in a subset of casesVasiliki 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...
- Familial risk of childhood cancer and tumors in the Li-Fraumeni spectrum in the Utah Population Database: implications for genetic evaluation in pediatric practiceKaren 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...
- Complex genotype sarcomas display familial inheritance independent of known cancer predisposition syndromesKevin 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...
- A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic herniaCammon 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...
- 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 expressionJoshua 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...
- EWS/FLI-responsive GGAA microsatellites exhibit polymorphic differences between European and African populationsRobert 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...
- The clone wars - revenge of the metastatic rogue state: the sarcoma paradigmHolly 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...
- At-risk populations for osteosarcoma: the syndromes and beyondGeorge 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...
- Potential for modulation of the fas apoptotic pathway by epidermal growth factor in sarcomasDavid 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...
- Melanoma mimic: a case of multiple pagetoid Spitz neviKalynne 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...
- Of mice and men: opportunities to use genetically engineered mouse models of synovial sarcoma for preclinical cancer therapeutic evaluationKevin 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...
- Clinical and biochemical function of polymorphic NR0B1 GGAA-microsatellites in Ewing sarcoma: a report from the Children's Oncology GroupMichael J Monument
Sarcoma Services, Department of Orthopedic Surgery, University of Utah, Salt Lake City, Utah, United States of America Center for Children s Cancer Research, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, United States of America
PLoS ONE 9:e104378. 2014..These microsatellites are highly polymorphic in humans, and preliminary evidence suggests EWS/FLI-mediated gene expression is highly dependent on the number of GGAA motifs within the microsatellite...
- Novel molecular aberrations and pathologic findings in a tubulocystic variant of renal cell carcinomaNikhil A Sangle
Department of Pathology ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
Indian J Pathol Microbiol 56:428-33. 2013..The novel molecular findings described in TRCC might represent new targets for novel therapies. ..
- 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....
- SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paragangliomaHuai 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...
- Succinate dehydrogenase - Assembly, regulation and role in human diseaseJared 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...
- Identification of a novel p53 in-frame deletion in a Li-Fraumeni-like familyJoshua 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)...
- DNA copy number analysis of Grade II-III and Grade IV gliomas reveals differences in molecular ontogeny including chromothripsis associated with IDH mutation statusAdam Cohen
Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, UT, 84112, USA
Acta Neuropathol Commun 3:34. 2015..We analyzed copy number alterations (CNAs) across grades (Grade II-III and GBM) in both IDH (mut) and IDH (wt) infiltrating gliomas using molecular inversion probe arrays...
- Children's Cancer and Environmental Exposures: Professional Attitudes and PracticesChristine M Zachek
Western States Pediatric Environmental Health Specialty Unit, University of California San Francisco, San Francisco Center for Integrative Research on Childhood Leukemia and the Environment, University of California Berkeley, Berkeley Stanford University School of Medicine, Stanford, CA Department of Pediatrics, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT Dana Farber Cancer Institute, Boston, MA
J Pediatr Hematol Oncol 37:491-7. 2015..To identify the basis of this deficit, we sought to assess the environmental history-taking behavior and perceptions of environmental health among pediatric hematologists and oncologists...
- Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma familiesKory W Jasperson
Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Rm 1166, Salt Lake City, UT, 84112, USA
Fam Cancer 13:257-65. 2014..Whole-body MRI reduces radiation exposure compared to computed tomography scan and time compared to dedicated MRI of the head/neck, thorax, and abdomen/pelvis...
- FOXL2 mutation and large-scale genomic imbalances in adult granulosa cell tumors of the ovaryKatherine B Geiersbach
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA
Cancer Genet 204:596-602. 2011..This study provides the first correlation of FOXL2 mutation status and genomic imbalances in AGCTs, and it further elucidates the mechanisms for mutant allele imbalance in cancer...
- Pilot undergraduate course teaches students about chronic illness in children: an educational intervention studyRoberto E Montenegro
Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
Educ Health (Abingdon) 27:34-8. 2014..The curriculum was designed like a graduate-level seminar that included workshops, lectures, readings, writing, and lively discussions...
- Internet use among adolescent and young adults (AYA) with cancerJoshua 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...
- Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotypingJinchuan 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...
- Glutathione s-transferases in pediatric cancerWen 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...