Joni L Rutter

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes
    Alice J Sigurdson
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, 6120 Executive Boulevard, Bethesda, Maryland, 20892 7238, USA
    BMC Cancer 4:9. 2004
  2. ncbi Symbiotic relationship of pharmacogenetics and drugs of abuse
    Joni L Rutter
    National Institute on Drug Abuse, National Institutes of Health, Department of Health and Human Services, 6001 Executive Boulevard, Bethesda, MD 20892, USA
    AAPS J 8:E174-84. 2006
  3. ncbi The HER2 I655V polymorphism and breast cancer risk in Ashkenazim
    Joni L Rutter
    Laboratory of Population Genetics, Center for Cancer Research, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Epidemiology 14:694-700. 2003
  4. ncbi Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: evidence from 261 cases in Israel, 1976-1999
    Gabriel Chodick
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892 7238, USA
    Eur J Med Genet 51:141-7. 2008
  5. ncbi Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals
    Joni L Rutter
    Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland
    Hum Mutat 22:121-8. 2003
  6. ncbi Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan
    Alice J Sigurdson
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892 7238, USA
    Radiat Res 171:77-88. 2009
  7. ncbi Candidate single nucleotide polymorphism selection using publicly available tools: a guide for epidemiologists
    Parveen Bhatti
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892-7238, USA
    Am J Epidemiol 164:794-804. 2006
  8. ncbi Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibrium
    Ruth M Pfeiffer
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, EPS 8030, Bethesda, MD 20892 7244, USA
    Genet Epidemiol 22:94-102. 2002
  9. ncbi Two approaches to mutation detection based on functional data
    Ruth M Pfeiffer
    National Cancer Institute, 6120 Executive Blvd, Bethesda, MD 20892 7244, USA
    Stat Med 21:3447-64. 2002
  10. ncbi Heterogeneity of risk for melanoma and pancreatic and digestive malignancies: a melanoma case-control study
    Joni L Rutter
    Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892-7236, USA
    Cancer 101:2809-16. 2004

Detail Information

Publications15

  1. ncbi Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes
    Alice J Sigurdson
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, 6120 Executive Boulevard, Bethesda, Maryland, 20892 7238, USA
    BMC Cancer 4:9. 2004
    ..Thus, 19 single nucleotide polymorphisms (SNPs) in eight genes involved in base excision repair (XRCC1, APEX, POLD1), BRCA1 protein interaction (BRIP1, ZNF350, BRCA2), and growth regulation (TGFss1, IGFBP3) were evaluated...
  2. ncbi Symbiotic relationship of pharmacogenetics and drugs of abuse
    Joni L Rutter
    National Institute on Drug Abuse, National Institutes of Health, Department of Health and Human Services, 6001 Executive Boulevard, Bethesda, MD 20892, USA
    AAPS J 8:E174-84. 2006
    ..This review highlights key studies and identifies important genes in drug abuse pharmacogenetics that provide a basis for better diagnosis and treatment of drug abuse disorders...
  3. ncbi The HER2 I655V polymorphism and breast cancer risk in Ashkenazim
    Joni L Rutter
    Laboratory of Population Genetics, Center for Cancer Research, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Epidemiology 14:694-700. 2003
    ..CONCLUSION These analyses suggest that the HER2 valine allele might be associated with increased risk of breast cancer, especially in young women and in women with a family history of the disease...
  4. ncbi Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: evidence from 261 cases in Israel, 1976-1999
    Gabriel Chodick
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892 7238, USA
    Eur J Med Genet 51:141-7. 2008
    ..8%) and non-Ashkenazi Jews (9.1%). The combined prevalence of BRCA1/BRCA2 founder mutations among Ashkenazi Jewish men is slightly higher than for women, due to a higher frequency of BRCA2 mutations...
  5. ncbi Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals
    Joni L Rutter
    Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland
    Hum Mutat 22:121-8. 2003
    ..Further analysis in unselected cases will be required to know whether the identified variants play a role in genetic predisposition to breast cancer in the general population. Hum Mutat 22:121-128, 2003. Published 2003 Wiley-Liss, Inc...
  6. ncbi Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan
    Alice J Sigurdson
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892 7238, USA
    Radiat Res 171:77-88. 2009
    ..Other pathways such as genes in double-strand break repair, apoptosis and genes related to proliferation should also be pursued...
  7. ncbi Candidate single nucleotide polymorphism selection using publicly available tools: a guide for epidemiologists
    Parveen Bhatti
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892-7238, USA
    Am J Epidemiol 164:794-804. 2006
    ..The authors show a "real world" application of some existing bioinformatics tools for use in large epidemiologic studies and genetic analyses. They also reviewed alternative approaches that provide related information...
  8. ncbi Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibrium
    Ruth M Pfeiffer
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, EPS 8030, Bethesda, MD 20892 7244, USA
    Genet Epidemiol 22:94-102. 2002
    ..Our methods allow for imperfect assay sensitivity and specificity. The expected savings in numbers of assays required when pooling is utilized compared to individual testing are quantified...
  9. ncbi Two approaches to mutation detection based on functional data
    Ruth M Pfeiffer
    National Cancer Institute, 6120 Executive Blvd, Bethesda, MD 20892 7244, USA
    Stat Med 21:3447-64. 2002
    ..We apply both methods to data on the breast cancer susceptibility gene BRCA1 and test the performance of the methods on independent samples...
  10. ncbi Heterogeneity of risk for melanoma and pancreatic and digestive malignancies: a melanoma case-control study
    Joni L Rutter
    Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892-7236, USA
    Cancer 101:2809-16. 2004
    ..Even in a large case-control study, few families that had multiple members with melanoma were identified, and family members with pancreatic malignancies were rare...
  11. ncbi Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study
    Joni L Rutter
    Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7246, USA
    J Natl Cancer Inst 95:1072-8. 2003
    ..We assessed the level and persistence of reduction of ovarian (including peritoneal) cancer risk after gynecologic surgeries for women who carry BRCA1/2 mutations but were not selected from high-risk clinics...
  12. ncbi Re: Population-based, case-control study of HER2 genetic polymorphism and breast cancer risk
    Michael Hauptmann
    J Natl Cancer Inst 95:1251-2. 2003
  13. ncbi Identification and characterization of novel human transcripts embedded within HMGA2 in t(12;14)(q15;q24.1) uterine leiomyoma
    Susan E Ingraham
    Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati, Cincinnati, OH 45267 0524, USA
    Mutat Res 602:43-53. 2006
    ..Although the roles for these embedded transcripts are still unknown, preliminary data suggest that they are members of the family of non-coding RNA and that they may play an important role in the pathology of uterine leiomyoma...
  14. ncbi The nuts and bolts of gene array technology and its application to drug abuse research
    David Shurtleff
    Drug Alcohol Depend 91:102-6. 2007
  15. ncbi Setting priorities for genomic research
    Wade Berrettini
    Science 304:1445-7; author reply 1445-7. 2004