S A Savage

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. doi request reprint Genome-wide association study identifies two susceptibility loci for osteosarcoma
    Sharon A Savage
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, MD, USA
    Nat Genet 45:799-803. 2013
  2. doi request reprint Aplastic Anemia & MDS International Foundation (AA&MDSIF): bone marrow failure disease scientific symposium 2012
    Sharon A Savage
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892, United States
    Leuk Res 37:848-51. 2013
  3. doi request reprint Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders
    Bari J Ballew
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd EPS 7018, Rockville, MD 20892, USA
    Expert Rev Hematol 6:327-37. 2013
  4. doi request reprint Connecting complex disorders through biology
    Sharon 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
  5. pmc LINE-1 methylation is inherited in familial testicular cancer kindreds
    Lisa 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
  6. pmc A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma
    Lisa Mirabello
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA
    BMC Cancer 11:209. 2011
  7. pmc Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review
    Neelam 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
  8. doi request reprint Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita
    Sharon 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
  9. pmc Dyskeratosis congenita: the first NIH clinical research workshop
    Sharon 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
  10. pmc Dyskeratosis congenita
    Sharon 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

Detail Information

Publications45

  1. doi request reprint Genome-wide association study identifies two susceptibility loci for osteosarcoma
    Sharon A Savage
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, MD, USA
    Nat Genet 45:799-803. 2013
    ..2 (rs7591996 and rs10208273; P = 1.0 × 10⁻⁸ and 2.9 × 10⁻⁷, respectively). These two loci warrant further exploration to uncover the biological mechanisms underlying susceptibility to osteosarcoma...
  2. doi request reprint Aplastic Anemia & MDS International Foundation (AA&MDSIF): bone marrow failure disease scientific symposium 2012
    Sharon A Savage
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892, United States
    Leuk Res 37:848-51. 2013
    ..This report summarizes the symposium presentations by 30 of the world's leading AA, MDS, and PNH researchers on recent findings, current areas of controversy, and recommendations for basic and clinical research to advance the field...
  3. doi request reprint Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders
    Bari J Ballew
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd EPS 7018, Rockville, MD 20892, USA
    Expert Rev Hematol 6:327-37. 2013
    ..The authors review the pathobiology that connects DC and the related telomere biology disorders, methods of diagnosis and management modalities...
  4. doi request reprint Connecting complex disorders through biology
    Sharon 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...
  5. pmc LINE-1 methylation is inherited in familial testicular cancer kindreds
    Lisa 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...
  6. pmc A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma
    Lisa 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...
  7. pmc Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review
    Neelam 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:..
  8. doi request reprint Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita
    Sharon 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...
  9. pmc Dyskeratosis congenita: the first NIH clinical research workshop
    Sharon 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...
  10. pmc Dyskeratosis congenita
    Sharon 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
    ....
  11. pmc Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R
    Sharon 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...
  12. pmc TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
    Sharon 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...
  13. pmc The role of telomere biology in bone marrow failure and other disorders
    Sharon 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...
  14. pmc Genetic variation in five genes important in telomere biology and risk for breast cancer
    S 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...
  15. ncbi request reprint Analysis of genes critical for growth regulation identifies Insulin-like Growth Factor 2 Receptor variations with possible functional significance as risk factors for osteosarcoma
    Sharon 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...
  16. ncbi request reprint Interleukin-8 polymorphisms are not associated with gastric cancer risk in a Polish population
    Sharon 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
  17. ncbi request reprint Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia
    Sharon 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...
  18. ncbi request reprint Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint
    Sharon 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...
  19. pmc The genetics and clinical manifestations of telomere biology disorders
    Sharon 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...
  20. ncbi request reprint Variants of the IL8 and IL8RB genes and risk for gastric cardia adenocarcinoma and esophageal squamous cell carcinoma
    Sharon 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...
  21. ncbi request reprint Polymorphisms in interleukin -2, -6, and -10 are not associated with gastric cardia or esophageal cancer in a high-risk chinese population
    Sharon 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
  22. ncbi request reprint Germ-line genetic variation of TP53 in osteosarcoma
    Sharon 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...
  23. ncbi request reprint Telomere stability genes are not mutated in osteosarcoma cell lines
    Sharon 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...
  24. ncbi request reprint Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease
    James 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...
  25. pmc Genetic variation at chromosome 8q24 in osteosarcoma cases and controls
    Lisa 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...
  26. pmc The association of telomere length and genetic variation in telomere biology genes
    Lisa 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...
  27. pmc Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study
    Blanche 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...
  28. pmc Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita
    Ekaterini 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...
  29. pmc A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma
    Maria 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...
  30. pmc Leukocyte telomere length in a population-based case-control study of ovarian cancer: a pilot study
    Lisa 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...
  31. pmc Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852 7231, USA
    Blood 110:1439-47. 2007
    ....
  32. pmc Cancer in dyskeratosis congenita
    Blanche 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
    ....
  33. pmc Worldwide genetic structure in 37 genes important in telomere biology
    L Mirabello
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
    Heredity (Edinb) 108:124-33. 2012
    ..As a group, there appears to be less diversity and differentiation in telomere biology genes than in genes with different functions, possibly due to their critical role in telomere maintenance and chromosomal stability...
  34. pmc The association between leukocyte telomere length and cigarette smoking, dietary and physical variables, and risk of prostate cancer
    Lisa 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...
  35. pmc International osteosarcoma incidence patterns in children and adolescents, middle ages and elderly persons
    Lisa 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...
  36. pmc Osteosarcoma incidence and survival rates from 1973 to 2004: data from the Surveillance, Epidemiology, and End Results Program
    Lisa 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...
  37. ncbi request reprint Genetic variation and hematopoietic stem cell transplantation: expansion of the paradigm
    Sharon 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...
  38. pmc Common genetic variants in the 9p21 region and their associations with multiple tumours
    F Gu
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20852, USA
    Br J Cancer 108:1378-86. 2013
    ..The chromosome 9p21.3 region has been implicated in the pathogenesis of multiple cancers...
  39. ncbi request reprint Using germ-line genetic variation to investigate and treat cancer
    Sharon 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...
  40. pmc 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...
  41. pmc Secondary supratentorial primitive neuroectodermal tumor following treatment of childhood osteosarcoma
    Courtney 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...
  42. pmc The association of telomere length and cancer: a meta-analysis
    Ingrid 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...
  43. pmc Parathyroid tumor development involves deregulation of homeobox genes
    H 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...
  44. ncbi request reprint The evidence for prostate cancer risk loci at 8q24 grows stronger
    Sharon A Savage
    J Natl Cancer Inst 99:1499-501. 2007
  45. ncbi request reprint Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
    Sharon A Savage
    Blood Cells Mol Dis 37:134-6. 2006