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. ..
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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....
- 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)...
- 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...
- 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...
- 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...
- 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...
- 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 course provides the unique opportunity to learn directly from those who care for and those who have lived with chronic illness. ..
- 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...
- 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...
- 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...