Research Topics
Species | S SavasSummaryAffiliation: Samuel Lunenfeld Research Institute Country: Canada Publications
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Detail Information
Publications
Polymorphisms cMyc-N11S and p27-V109G and breast cancer risk and prognosisJane 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...
Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish familiesS Savas
Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
Prenat Diagn 22:703-9. 2002....- Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPsSevtap 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... - Candidate nsSNPs that can affect the functions and interactions of cell cycle proteinsSevtap 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... - Identifying functional genetic variants in DNA repair pathway using protein conservation analysisSevtap 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... - Human non-synonymous single nucleotide polymorphisms can influence ubiquitin-mediated protein degradationSevtap 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... 
Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populationsSevtap 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....
A comprehensive catalogue of functional genetic variations in the EGFR pathway: protein-protein interaction analysis reveals novel genes and polymorphisms important for cancer researchSevtap 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...- Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction networkSevtap 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... - Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutationsN L Prigoda
HHT Solutions, Toronto Western Hospital, Toronto, Canada
J Med Genet 43:722-8. 2006..The 39 families (20%) yet to be resolved may carry ENG, ACVRL1, or MADH4 mutations too complex or difficult to detect, or mutations in genes yet to be identified... - Discovery of genetic profiles impacting response to chemotherapy: application to gemcitabineHamdi 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... - Biological implications of SNPs in signal peptide domains of human proteinsHamdi 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... - Studying genetic variations in cancer prognosis (and risk): a primer for cliniciansSevtap 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... - Genetic variations as cancer prognostic markers: review and updateSevtap 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... - Human SNPs resulting in premature stop codons and protein truncationSevtap 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... - Genetic variation and the mitogen-activated protein kinase (MAPK) signaling pathwayStewart 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... - The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletionJennifer 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... - Genetic heterogeneity in Usher syndromeBronya 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... - Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C geneSevtap 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)... - The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian populationSevtap Savas
Department of Genetics, Louisiana State University Health Sciences Center, 533 Bolivar Street, New Orleans, LA 70112, USA
Hum Genet 110:95-7. 2002..This individual had neither the 216G-->A mutation nor the Acadian VNTR(t,t) structure. 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...