S Savas

Summary

Affiliation: Samuel Lunenfeld Research Institute
Country: Canada

Publications

  1. pmc Polymorphisms cMyc-N11S and p27-V109G and breast cancer risk and prognosis
    Jane C Figueiredo
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    BMC Cancer 7:99. 2007
  2. ncbi Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families
    S Savas
    Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
    Prenat Diagn 22:703-9. 2002
  3. pmc Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs
    Sevtap Savas
    Fred A, Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, M5G 1X5, ON, Canada
    BMC Cancer 5:107. 2005
  4. ncbi Candidate nsSNPs that can affect the functions and interactions of cell cycle proteins
    Sevtap Savas
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Ontario, Canada
    Proteins 58:697-705. 2005
  5. ncbi Identifying functional genetic variants in DNA repair pathway using protein conservation analysis
    Sevtap Savas
    Fred A Litwin Centre for Cancer Genetics, Mount Sinai Hospital, Samuel Lunenfeld Research Institute, 600 University Avenue Room 992A, Toronto, ON M5G 1X5, Canada
    Cancer Epidemiol Biomarkers Prev 13:801-7. 2004
  6. ncbi Human non-synonymous single nucleotide polymorphisms can influence ubiquitin-mediated protein degradation
    Sevtap Savas
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    OMICS 11:200-8. 2007
  7. pmc Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations
    Sevtap Savas
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, M5G 1X5, Canada
    Hum Genomics 2:287-96. 2006
  8. doi A comprehensive catalogue of functional genetic variations in the EGFR pathway: protein-protein interaction analysis reveals novel genes and polymorphisms important for cancer research
    Sevtap Savas
    Division of Applied Molecular Oncology, Department of Medical Biophysics, Ontario Cancer Institute, Toronto, Ontario, Canada
    Int J Cancer 125:1257-65. 2009
  9. ncbi Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction network
    Sevtap Savas
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Ontario, Canada
    Physiol Genomics 29:109-17. 2007
  10. pmc Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations
    N L Prigoda
    HHT Solutions, Toronto Western Hospital, Toronto, Canada
    J Med Genet 43:722-8. 2006

Collaborators

Detail Information

Publications20

  1. pmc Polymorphisms cMyc-N11S and p27-V109G and breast cancer risk and prognosis
    Jane C Figueiredo
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    BMC Cancer 7:99. 2007
    ..In this study, we focus on a rare non-synonymous polymorphism in cMyc (N11S) and a common polymorphism in p27 (V109G) and determine their role in risk and prognosis using data collected from the Ontario Breast Cancer Family Registry...
  2. ncbi Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families
    S Savas
    Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
    Prenat Diagn 22:703-9. 2002
    ....
  3. pmc Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs
    Sevtap Savas
    Fred A, Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, M5G 1X5, ON, Canada
    BMC Cancer 5:107. 2005
    ..Non-synonymous single nucleotide polymorphisms (nsSNPs) result in the substitution of the encoded amino acids and thus are likely to alter the phosphorylation motifs in the proteins...
  4. ncbi Candidate nsSNPs that can affect the functions and interactions of cell cycle proteins
    Sevtap Savas
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Ontario, Canada
    Proteins 58:697-705. 2005
    ..Our study strongly suggests the presence of naturally occurring genetic variations in the cell cycle proteins that may affect their interactions and functions with possible roles in complex human diseases, such as cancer...
  5. ncbi Identifying functional genetic variants in DNA repair pathway using protein conservation analysis
    Sevtap Savas
    Fred A Litwin Centre for Cancer Genetics, Mount Sinai Hospital, Samuel Lunenfeld Research Institute, 600 University Avenue Room 992A, Toronto, ON M5G 1X5, Canada
    Cancer Epidemiol Biomarkers Prev 13:801-7. 2004
    ..The strategy developed and applied in this study has the potential to identify functional protein variants of DNA repair pathway that may be associated with cancer predisposition...
  6. ncbi Human non-synonymous single nucleotide polymorphisms can influence ubiquitin-mediated protein degradation
    Sevtap Savas
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    OMICS 11:200-8. 2007
    ..Although experimental analyses are required to confirm these results, they suggest that nsSNPs can induce changes in ubiquitin-mediated protein degradation...
  7. pmc Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations
    Sevtap Savas
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, M5G 1X5, Canada
    Hum Genomics 2:287-96. 2006
    ....
  8. doi A comprehensive catalogue of functional genetic variations in the EGFR pathway: protein-protein interaction analysis reveals novel genes and polymorphisms important for cancer research
    Sevtap Savas
    Division of Applied Molecular Oncology, Department of Medical Biophysics, Ontario Cancer Institute, Toronto, Ontario, Canada
    Int J Cancer 125:1257-65. 2009
    ..The genes and their SNPs identified in the network-based analysis represent potential candidates for gene-gene and SNP-SNP interaction studies in cancer research...
  9. ncbi Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction network
    Sevtap Savas
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Ontario, Canada
    Physiol Genomics 29:109-17. 2007
    ..The nsSNPs reported in here can be characterized by experimental approaches to elucidate their exact biological roles and whether they are related to human disease...
  10. pmc Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations
    N L Prigoda
    HHT Solutions, Toronto Western Hospital, Toronto, Canada
    J Med Genet 43:722-8. 2006
    ..Genetic testing can identify individuals at risk of developing the disease and is a useful diagnostic tool...
  11. doi Discovery of genetic profiles impacting response to chemotherapy: application to gemcitabine
    Hamdi Jarjanazi
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Ontario, Canada
    Hum Mutat 29:461-7. 2008
    ..The results obtained using this novel methodology can be used to better design the clinical trials for effective study of the chemotherapeutic agents and thus provide a basis for individualized chemotherapy...
  12. ncbi Biological implications of SNPs in signal peptide domains of human proteins
    Hamdi Jarjanazi
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    Proteins 70:394-403. 2008
    ..Functional evaluation of candidates identified herein may reveal effects on major cellular processes including immune cell function, cell recognition and adhesion, and signal transduction...
  13. ncbi Studying genetic variations in cancer prognosis (and risk): a primer for clinicians
    Sevtap Savas
    Division of Applied Molecular Oncology, Department of Medical Biophysics, Ontario Cancer Institute, Toronto, Canada
    Oncologist 14:657-66. 2009
    ..In this review, we summarize the current knowledge on how candidate genes and genetic variations are selected to evaluate gene-outcome, gene-prognosis, and gene-treatment response relationships as applicable to the practicing oncologist...
  14. doi Genetic variations as cancer prognostic markers: review and update
    Sevtap Savas
    Department of Medical Biophysics, Division of Applied Molecular Oncology, Ontario Cancer Institute, Toronto, Ontario, Canada
    Hum Mutat 30:1369-77. 2009
    ..We discuss the interrelatedness among the disease susceptibility, treatment response, and prognosis at the genetic level and focus on how the emerging technologies and approaches can uniquely benefit the genetic prognosis studies...
  15. pmc Human SNPs resulting in premature stop codons and protein truncation
    Sevtap Savas
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, M5G 1X5, Canada
    Hum Genomics 2:274-86. 2006
    ..We believe that the SNPs reported here are likely to affect gene/protein function, although their biological and evolutionary roles need to be further investigated...
  16. ncbi Genetic variation and the mitogen-activated protein kinase (MAPK) signaling pathway
    Stewart Cho
    Department of Laboratory Medicine and Pathobiology, University of Toronto, Canada
    OMICS 10:66-81. 2006
    ..This strategy can effectively determine which nsSNPs potentially alter protein function, and can be utilized to study the genetic architecture and disease association of other biological protein complexes and networks...
  17. ncbi The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion
    Jennifer Lentz
    Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, 70112, USA
    Hum Genet 116:225-7. 2005
    ..Thus, the instability of the USH1C mRNA is explained by the 216G-->A out-of-frame splice site mutation...
  18. ncbi Genetic heterogeneity in Usher syndrome
    Bronya J B Keats
    Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, Louisiana 70112, USA
    Am J Med Genet A 130:13-6. 2004
    ..Ongoing studies are enabling early diagnosis of Usher syndrome in children who present with hearing loss, thus providing time to prepare for the onset of visual loss...
  19. ncbi Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene
    Sevtap Savas
    Department of Genetics, Louisiana State University Health Sciences Center, 533 Bolivar Street, New Orleans, LA 70112, USA
    Genomics 83:439-44. 2004
    ..However, the 9-repeat VNTR(t,t) and 6-repeat VNTR(t) alleles shared the same haplotype, suggesting an expansion from 6(t) to 9(t,t)...
  20. ncbi The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population
    Sevtap Savas
    Department of Genetics, Louisiana State University Health Sciences Center, 533 Bolivar Street, New Orleans, LA 70112, USA
    Hum Genet 110:95-7. 2002
    ..These results suggest that the 216G-->A mutation and the 9VNTR(t,t) allele are restricted to the Acadians and are in complete linkage disequilibrium...