SEAN VAHRAM TAVTIGIAN

Summary

Affiliation: International Agency for Research on Cancer
Country: France

Publications

  1. pmc Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods
    Ewy Mathe
    International Agency for Research on Cancer, Lyon, France
    Nucleic Acids Res 34:1317-25. 2006
  2. pmc Identification of women with an increased risk of developing radiation-induced breast cancer
    Elisabeth Cardis
    Breast Cancer Res 9:106. 2007
  3. pmc Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms
    Christopher Pettigrew
    School of Molecular and Microbial Sciences, The University of Queensland, St, Lucia, Queensland, Australia
    Breast Cancer Res 7:R929-39. 2005
  4. pmc Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
    Paul K Lovelock
    Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Herston Road, Queensland 4029, Australia
    Breast Cancer Res 9:R82. 2007
  5. pmc Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z
    Yang Chen
    Myriad Genetics, Inc, 320 Wakara Way, Salt Lake City, UT 84108, USA
    BMC Mol Biol 6:12. 2005
  6. pmc Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus
    Sonia Garritano
    Department of Biology, Genetics via Derna 1, University of Pisa, Pisa, Italy
    BMC Genet 10:5. 2009
  7. pmc Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families
    Francine Durocher
    Cancer Genomics Laboratory, Oncology and Molecular Endocrinology Research Centre, Centre Hospitalier Universitaire de Quebec and Laval University, Quebec, G1V 4G2, Canada
    BMC Cancer 6:230. 2006
  8. pmc Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
    S V Tavtigian
    International Agency for Research on Cancer, 150 cours Albert Thomas, 69372 Lyon, France
    J Med Genet 43:295-305. 2006
  9. pmc In silico analysis of missense substitutions using sequence-alignment based methods
    Sean V Tavtigian
    International Agency for Research on Cancer IARC, Lyon, France
    Hum Mutat 29:1327-36. 2008
  10. pmc Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications
    Sean V Tavtigian
    International Agency for Research on Cancer IARC, Lyon, France
    Hum Mutat 29:1342-54. 2008

Research Grants

Collaborators

Detail Information

Publications11

  1. pmc Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods
    Ewy Mathe
    International Agency for Research on Cancer, Lyon, France
    Nucleic Acids Res 34:1317-25. 2006
    ..9% specificity and sensitivity, respectively). These results further demonstrate the utility of the Align-GVGD method, which was previously applied to BRCA1. Align-GVGD is available online at http://agvgd.iarc.fr...
  2. pmc Identification of women with an increased risk of developing radiation-induced breast cancer
    Elisabeth Cardis
    Breast Cancer Res 9:106. 2007
    ..If confirmed, mutation carriers may wish to consider alternatives to X-ray for diagnostic purposes. The need for tailored cancer treatment strategies in carriers should also be evaluated carefully...
  3. pmc Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms
    Christopher Pettigrew
    School of Molecular and Microbial Sciences, The University of Queensland, St, Lucia, Queensland, Australia
    Breast Cancer Res 7:R929-39. 2005
    ..Although predicting the effects of changes in consensus 5' and 3' splice sites near intron:exon boundaries is relatively straightforward, predicting the possible effects of changes in exonic splicing enhancers (ESEs) remains a challenge...
  4. pmc Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
    Paul K Lovelock
    Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Herston Road, Queensland 4029, Australia
    Breast Cancer Res 9:R82. 2007
    ....
  5. pmc Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z
    Yang Chen
    Myriad Genetics, Inc, 320 Wakara Way, Salt Lake City, UT 84108, USA
    BMC Mol Biol 6:12. 2005
    ..In humans, mutation of ELAC2 is associated with an increased risk of prostate cancer. ELAC2 has been shown to have tRNase Z activity and is associated with the gamma-tubulin complex...
  6. pmc Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus
    Sonia Garritano
    Department of Biology, Genetics via Derna 1, University of Pisa, Pisa, Italy
    BMC Genet 10:5. 2009
    ..Recently, the use of new fluorescent dyes allowed the high-resolution analysis of DNA melting curves (HRM)...
  7. pmc Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families
    Francine Durocher
    Cancer Genomics Laboratory, Oncology and Molecular Endocrinology Research Centre, Centre Hospitalier Universitaire de Quebec and Laval University, Quebec, G1V 4G2, Canada
    BMC Cancer 6:230. 2006
    ..ATR appears as a good candidate breast cancer susceptibility gene and the current study was designed to screen for ATR germline mutations potentially involved in breast cancer predisposition...
  8. pmc Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
    S V Tavtigian
    International Agency for Research on Cancer, 150 cours Albert Thomas, 69372 Lyon, France
    J Med Genet 43:295-305. 2006
    ..However, clinical testing methods with high sensitivity for deleterious mutations in these genes also detect many unclassified variants, primarily missense substitutions...
  9. pmc In silico analysis of missense substitutions using sequence-alignment based methods
    Sean V Tavtigian
    International Agency for Research on Cancer IARC, Lyon, France
    Hum Mutat 29:1327-36. 2008
    ..We conclude that carefully validated computational algorithms, in the context of other evidence, can be an important tool for classification of missense variants...
  10. pmc Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications
    Sean V Tavtigian
    International Agency for Research on Cancer IARC, Lyon, France
    Hum Mutat 29:1342-54. 2008
    ....
  11. ncbi A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening
    C Voegele
    International Agency for Research on Cancer, Lyon, France
    Bioinformatics 23:2504-6. 2007
    ..An important feature of our LIMS is that it enables tracking of information through a laboratory workflow where the process at one step is contingent on results from a previous step...

Research Grants3

  1. COMMON AND RARE SEQUENCE VARIANTS IN BREAST CANCER RISK
    Sean Tavtigian; Fiscal Year: 2007
    ....
  2. COMMON AND RARE SEQUENCE VARIANTS IN BREAST CANCER RISK
    Sean Tavtigian; Fiscal Year: 2009
    ....