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Genomes and Genes | S A SavageSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Connecting complex disorders through biologySharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA
Nat Genet 44:238-40. 2012..This discovery provides an important pathophysiological link between Coats plus and the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson syndrome...- LINE-1 methylation is inherited in familial testicular cancer kindredsLisa Mirabello
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
BMC Med Genet 11:77. 2010..Global DNA hypomethylation has been associated with the risk of cancers of the bladder and head/neck... - A comprehensive candidate gene approach identifies genetic variation associated with osteosarcomaLisa Mirabello
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA
BMC Cancer 11:209. 2011..We evaluated these hypotheses in an OS association study of genes from growth/hormone, bone formation, DNA repair, and ribosomal pathways... - Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature reviewNeelam Giri
Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville 20852, MD, USA
BMC Blood Disord 11:3. 2011..abstract:.. - Analysis of genes critical for growth regulation identifies Insulin-like Growth Factor 2 Receptor variations with possible functional significance as risk factors for osteosarcomaSharon A Savage
Section of Genomic Variation, Pediatric Oncology Branch, National Cancer Institute, 6120 Executive Boulevard, EPS 7018, Rockville, MD 20852, USA
Cancer Epidemiol Biomarkers Prev 16:1667-74. 2007..Osteosarcoma, the most common malignant primary bone tumor, typically occurs during the adolescent growth spurt. Germ-line genetic variation in genes critical in growth regulation could confer altered risk of osteosarcoma... - Genetic variation in five genes important in telomere biology and risk for breast cancerS A Savage
Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Br J Cancer 97:832-6. 2007..Intriguing associations with variants in TERT among women with a family history of breast cancer warrant follow-up in independent studies... - Dyskeratosis congenita: the first NIH clinical research workshopSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA
Pediatr Blood Cancer 53:520-3. 2009..dcoutreach.com/). Ongoing, open collaboration between the clinical, scientific, and family communities is required for continued improvement in our understanding of DC and the clinical consequences of telomeric defects... - The role of telomere biology in bone marrow failure and other disordersSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, United States
Mech Ageing Dev 129:35-47. 2008..Longitudinal studies of patients with very short telomeres but without classical DC are necessary to further understand the long-term sequelae, such as malignancy, osteonecrosis/osteoporosis, and pulmonary and liver disease... - TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenitaSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Am J Hum Genet 82:501-9. 2008..This represents the first shelterin complex mutation linked to human disease and confirms the role of very short telomeres as a diagnostic test for DC... - Dyskeratosis congenitaSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20852, USA
Hematol Oncol Clin North Am 23:215-31. 2009.... - Germ-line genetic variation of TP53 in osteosarcomaSharon A Savage
Pediatric Oncology Branch, CCR, NCI, NIH, Bethesda, Maryland
Pediatr Blood Cancer 49:28-33. 2007..We hypothesized that genetic variation in TP53 could be associated with OS risk based on its critical role in cell growth and effect of somatic mutations in OS tumors... - The genetics and clinical manifestations of telomere biology disordersSharon A Savage
Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA
Genet Med 12:753-64. 2010..We also suggest a grouping schema for the telomere disorders... - Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenitaSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD, USA
J Med Genet 48:285-8. 2011..The shelterin complex consists of six proteins encoded by TINF2, ACD, POT1, TERF1, TERF2 and TERF2IP, which are essential for telomeric stability. TINF2 mutations are present in 11-25% of patients with DC... - Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemiaSharon A Savage
Section of Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 4605, USA
Exp Hematol 34:664-71. 2006..Abnormal telomere shortening has been observed in a subset of individuals with aplastic anemia (AA). We hypothesized that genetic variation in two genes critical in telomere biology, TERF1 and TERF2, could be a risk factor for AA... - Interleukin-8 polymorphisms are not associated with gastric cancer risk in a Polish populationSharon A Savage
Section of Genomic Variation, Pediatric Oncology Branch, National Cancer Institute, Advanced Technology Center, 8717 Grovemont Circle, Bethesda, MD 20892-4605, USA
Cancer Epidemiol Biomarkers Prev 15:589-91. 2006 - Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraintSharon A Savage
Section on Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 4605, USA
Hum Mutat 26:343-50. 2005..These data establish a foundation for further investigation of these genes in population-genetics, evolution, and disease-association studies... - Telomere stability genes are not mutated in osteosarcoma cell linesSharon A Savage
Section of Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Advanced Technology Center, 8717 Grovemont Circle, Bethesda, MD 20892 4605, USA
Cancer Genet Cytogenet 160:79-81. 2005..However, we did confirm common genetic polymorphisms; an analysis of heterozygous sites suggests that loss of heterozygosity in OS is not present across these eight genes... - Variants of the IL8 and IL8RB genes and risk for gastric cardia adenocarcinoma and esophageal squamous cell carcinomaSharon A Savage
Section on Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Advanced Technology Center, 8717 Grovemont Circle, Gaithersburg, MD 20892 4605, USA
Cancer Epidemiol Biomarkers Prev 13:2251-7. 2004..These variants could confer an altered IL8 expression pattern or interact with environmental factors to increase the risk for inflammation and GCC... - Polymorphisms in interleukin -2, -6, and -10 are not associated with gastric cardia or esophageal cancer in a high-risk chinese populationSharon A Savage
Pediatric Oncology Branch, Center for Cancer Research, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
Cancer Epidemiol Biomarkers Prev 13:1547-9. 2004 - Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1RSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, USA
BMC Genet 9:31. 2008..The melanocortin 1 receptor gene (MC1R) is responsible for normal pigment variation in humans and is highly polymorphic with numerous population-specific alleles. Some MC1R variants have been associated with skin cancer risk... - Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell diseaseJames G Taylor
Section on Genomic Variation, Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Gaithersburg, MD 20877, USA
Blood 100:4303-9. 2002..35, 95% confidence interval [CI] 0.15-0.83, P =.04). Further study is required to confirm the importance of this variant in VCAM1 as a clinically useful modifier of outcome in SS disease... - Genetic variation at chromosome 8q24 in osteosarcoma cases and controlsLisa Mirabello
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA
Carcinogenesis 31:1400-4. 2010..Future large studies of osteosarcoma genetic risk factors are warranted to improve our understanding of the genetic contribution to this cancer of adolescents and young adults... - Cancer in dyskeratosis congenitaBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health DHHS, 6120 Executive Blvd, Executive Plaza South, Rockville, MD 20852 7231, USA
Blood 113:6549-57. 2009.... - The association of telomere length and genetic variation in telomere biology genesLisa Mirabello
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892, USA
Hum Mutat 31:1050-8. 2010..The combination of limited diversity and evolutionary conservation suggest that these genes may be under selective pressure. More work is needed to explore the role of genetic variants in telomere length regulation... - Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort studyBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852 7231, USA
Br J Haematol 150:179-88. 2010..The findings demonstrate that both FA and DC are major cancer susceptibility syndromes. The IBMFS, historically considered paediatric disorders, have important management implications for physicians treating adult patients... - Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenitaBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852 7231, USA
Blood 110:1439-47. 2007.... - Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenitaEkaterini T Tsilou
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Ophthalmology 117:615-22. 2010..All 4 syndromes have been associated with various physical abnormalities. As part of a genotype/phenotype/cancer susceptibility study, we determined the prevalence of ophthalmic manifestations in these 4 syndromes... - A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinomaMaria Teresa Landi
Division of Cancer Epidemiology, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Am J Hum Genet 85:679-91. 2009..In conclusion, a lung cancer GWAS identified a distinct hereditary contribution to adenocarcinoma... - Leukocyte telomere length in a population-based case-control study of ovarian cancer: a pilot studyLisa Mirabello
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, 20892, USA
Cancer Causes Control 21:77-82. 2010..Ovarian cancer tissues also have shortened telomeres and increased telomerase activity, suggesting that telomere abnormalities may be related to ovarian cancer... - Genetic variation and hematopoietic stem cell transplantation: expansion of the paradigmSharon A Savage
Pediatric Oncology Branch, Advanced Technology Center, National Cancer Institute/NIH, 8717 Grovemont Circle, Gaithersburg, MD 20877, USA
Pediatr Transplant 7:32-9. 2003..Variation within key molecules related to hematopoietic stem cell transplant in combination with the current knowledge of human leukocyte antigen variation will serve to improve donor-recipient matches and clinical outcome... - Osteosarcoma incidence and survival rates from 1973 to 2004: data from the Surveillance, Epidemiology, and End Results ProgramLisa Mirabello
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892, USA
Cancer 115:1531-43. 2009..Detailed descriptions of osteosarcoma incidence and survival with direct comparisons among patients of all ages and ethnicities are not available... - International osteosarcoma incidence patterns in children and adolescents, middle ages and elderly personsLisa Mirabello
Department of Health and Human Services, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA
Int J Cancer 125:229-34. 2009..Overall, worldwide osteosarcoma incidence rates were quite similar in the younger age groups. The greatest variation in incidence rates was observed in the elderly... - The association between leukocyte telomere length and cigarette smoking, dietary and physical variables, and risk of prostate cancerLisa Mirabello
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
Aging Cell 8:405-13. 2009..However, correlations of telomere length with healthy lifestyles were noted, suggesting the role of these factors in telomere biology maintenance and potentially impacting overall health status... - Secondary supratentorial primitive neuroectodermal tumor following treatment of childhood osteosarcomaCourtney D Fitzhugh
Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Pediatr Blood Cancer 53:496-8. 2009..Almost 5 years after the osteosarcoma diagnosis, the patient was diagnosed with a supratentorial PNET, which represents the first known case reported in a patient with osteosarcoma... - Genetic association studies in cancer: good, bad or no longer ugly?Sharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Hum Genomics 2:415-21. 2006..Moreover, the application and interpretation of these studies should be conducted cautiously... - Using germ-line genetic variation to investigate and treat cancerSharon A Savage
Section of Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Drug Discov Today 9:610-8. 2004..In turn, knowledge of genetic risk factors could afford opportunities for prevention, early intervention and minimization of deleterious toxicities associated with cancer therapy... - The association of telomere length and cancer: a meta-analysisIngrid M Wentzensen
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland 20852, USA
Cancer Epidemiol Biomarkers Prev 20:1238-50. 2011..Short telomeres in surrogate tissues (e.g., blood cells) are associated with increased cancer risk in several case-control studies, but findings are inconsistent in prospective studies... - Parathyroid tumor development involves deregulation of homeobox genesH C Jennifer Shen
Tumor Angiogenesis Section, Surgery Branch, National Cancer Institute, NIH, Bethesda, MD 20892, USA
Endocr Relat Cancer 15:267-75. 2008..Our results strongly reinforce the idea that abnormal expression of developmental HOX genes can be critical in human cancer progression... - The evidence for prostate cancer risk loci at 8q24 grows strongerSharon A Savage
J Natl Cancer Inst 99:1499-501. 2007 - Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failureSharon A Savage
Blood Cells Mol Dis 37:134-6. 2006