Susan L Neuhausen

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. ncbi request reprint HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease
    Susan L Neuhausen
    Department of Medical Informatics, University of Utah, Salt Lake City 84108, USA
    Hum Immunol 63:502-7. 2002
  2. ncbi request reprint Genome-wide linkage analysis for celiac disease in North American families
    Susan L Neuhausen
    Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City 84108, USA
    Am J Med Genet 111:1-9. 2002
  3. pmc Acceptance of genetic testing for hereditary breast ovarian cancer among study enrollees from an African American kindred
    Anita Yeomans Kinney
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112, USA
    Am J Med Genet A 140:813-26. 2006
  4. doi request reprint Strongly positive tissue transglutaminase antibodies are associated with Marsh 3 histopathology in adult and pediatric celiac disease
    Matthew R Donaldson
    Department of Dermatology, University of Utah, Salt Lake City, UT, USA
    J Clin Gastroenterol 42:256-60. 2008
  5. ncbi request reprint A role for XRCC4 in age at diagnosis and breast cancer risk
    Kristina Allen-Brady
    Genetic Epidemiology, Department of Medical Informatics, University of Utah, Salt Lake City, 84108, USA
    Cancer Epidemiol Biomarkers Prev 15:1306-10. 2006
  6. ncbi request reprint Risk reduction behaviors and provider communication following genetic counseling and BRCA1 mutation testing in an African American kindred
    Anita Yeomans Kinney
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112, USA
    J Genet Couns 15:293-305. 2006
  7. ncbi request reprint Correlation of duodenal histology with tissue transglutaminase and endomysial antibody levels in pediatric celiac disease
    Matthew R Donaldson
    Department of Dermatology, University of Utah, Salt Lake City, Utah, USA
    Clin Gastroenterol Hepatol 5:567-73. 2007
  8. ncbi request reprint Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm
    James M Farnham
    Department of Medical Informatics, University of Utah School of Medicine, 391 Chipeta Way, Salt Lake City, UT 84108, USA
    Hum Genet 114:250-5. 2004
  9. ncbi request reprint Dietary calcium, vitamin D, VDR genotypes and colorectal cancer
    Martha L Slattery
    Health Research Center, University of Utah, Salt Lake City, UT 84108, USA
    Int J Cancer 111:750-6. 2004
  10. ncbi request reprint Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers
    Carey A Cullinane
    City of Hope National Medical Center, Duarte, CA, USA
    Int J Cancer 117:988-91. 2005

Collaborators

Detail Information

Publications42

  1. ncbi request reprint HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease
    Susan L Neuhausen
    Department of Medical Informatics, University of Utah, Salt Lake City 84108, USA
    Hum Immunol 63:502-7. 2002
    ..078). The HLA DQA1 DQB1 high-risk genotypes associated with celiac disease are similar in these Bedouin families with CD to what is observed in Northern and Southern Europeans...
  2. ncbi request reprint Genome-wide linkage analysis for celiac disease in North American families
    Susan L Neuhausen
    Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City 84108, USA
    Am J Med Genet 111:1-9. 2002
    ..Multipoint analyses are not robust to model misspecification, and further development of models is needed. Additional study of these and other families is necessary to validate or rule out the regions implicated in this study...
  3. pmc Acceptance of genetic testing for hereditary breast ovarian cancer among study enrollees from an African American kindred
    Anita Yeomans Kinney
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112, USA
    Am J Med Genet A 140:813-26. 2006
    ....
  4. doi request reprint Strongly positive tissue transglutaminase antibodies are associated with Marsh 3 histopathology in adult and pediatric celiac disease
    Matthew R Donaldson
    Department of Dermatology, University of Utah, Salt Lake City, UT, USA
    J Clin Gastroenterol 42:256-60. 2008
    ..Our objective was to determine whether high serologic IgA tissue transglutaminase antibodies (TTGA) are exclusively associated with celiac disease (CD)...
  5. ncbi request reprint A role for XRCC4 in age at diagnosis and breast cancer risk
    Kristina Allen-Brady
    Genetic Epidemiology, Department of Medical Informatics, University of Utah, Salt Lake City, 84108, USA
    Cancer Epidemiol Biomarkers Prev 15:1306-10. 2006
    ..Our results suggest that XRCC4 may play a role in the age at diagnosis and risk of breast cancer in non-BRCA1/2, heritable breast cancer cases...
  6. ncbi request reprint Risk reduction behaviors and provider communication following genetic counseling and BRCA1 mutation testing in an African American kindred
    Anita Yeomans Kinney
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112, USA
    J Genet Couns 15:293-305. 2006
    ..Surveillance for breast cancer was preferred to prophylactic surgery and chemoprevention as a way to reduce risk for these cancers. Our data indicate that patient-provider communication about BRCA1 test results is suboptimal...
  7. ncbi request reprint Correlation of duodenal histology with tissue transglutaminase and endomysial antibody levels in pediatric celiac disease
    Matthew R Donaldson
    Department of Dermatology, University of Utah, Salt Lake City, Utah, USA
    Clin Gastroenterol Hepatol 5:567-73. 2007
    ..Data correlating TTGA and EMA levels with degree of villous atrophy are limited. We compared duodenal histopathology in pediatric CD patients with TTGA and EMA serologies, symptoms, height, and weight...
  8. ncbi request reprint Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm
    James M Farnham
    Department of Medical Informatics, University of Utah School of Medicine, 391 Chipeta Way, Salt Lake City, UT 84108, USA
    Hum Genet 114:250-5. 2004
    ..34, at D7S2421, corrected P=0.001). This study is the first to confirm the linkage of the 7q11 locus for IA...
  9. ncbi request reprint Dietary calcium, vitamin D, VDR genotypes and colorectal cancer
    Martha L Slattery
    Health Research Center, University of Utah, Salt Lake City, UT 84108, USA
    Int J Cancer 111:750-6. 2004
    ..The risk associated with VDR genotype seems to depend upon the level of dietary calcium and vitamin D and tumor site...
  10. ncbi request reprint Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers
    Carey A Cullinane
    City of Hope National Medical Center, Duarte, CA, USA
    Int J Cancer 117:988-91. 2005
    ..Among BRCA2 carriers, increasing parity was associated with a significant increase in the risk of breast cancer before age 50 and this increase was greatest in the 2-year period following a pregnancy...
  11. pmc Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers
    Eitan Friedman
    The Suzanne Levy Gertner Oncogenetics Unit, The Chaim Sheba Medical Center, Tel Hashomer, Israel, and the Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Breast Cancer Res 8:R15. 2006
    ....
  12. ncbi request reprint Risks of cancer due to a single BRCA1 mutation in an extended Utah kindred
    Florian D Vogl
    Department of Gynecology, Breast Health Center, Hospital F Tappeiner Merano, Via Rossini 12, 39012 Merano, Italy
    Fam Cancer 6:63-71. 2007
    ..To examine the efficiency and bias associated with different methods of risk calculation, we analyzed a single mutation in a large pedigree with known ascertainment...
  13. ncbi request reprint Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study
    John R McLaughlin
    Samuel Lunenfeld Research Institute, Toronto, ON, Canada
    Lancet Oncol 8:26-34. 2007
    ..We aimed to assess the effect of these three risk factors, and of tubal ligation, on the risk of ovarian cancer in women who carry a mutation in the BRCA1 or BRCA2 genes...
  14. pmc Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers
    Andrea Eisen
    Sunnybrook Regional Cancer Center, Toronto, Ontario, Canada
    J Natl Cancer Inst 100:1361-7. 2008
    ....
  15. pmc AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First Street Southwest, Rochester, MN 55905, USA
    Cancer Epidemiol Biomarkers Prev 16:1416-21. 2007
    ..In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers...
  16. pmc RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
    Am J Hum Genet 81:1186-200. 2007
    ..Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers...
  17. doi request reprint Genetic variation in IGFBP2 and IGFBP5 is associated with breast cancer in populations of African descent
    Chad P Garner
    Department of Epidemiology, University of California Irvine, 224 Irvine Hall, Irvine, CA, 92697 7550, USA
    Hum Genet 123:247-55. 2008
    ..0038 and P = 0.01 in African-Americans and Nigerians, respectively. This study is the first to report associations between genetic variants in IGFBP2 and IGFBP5 and breast cancer risk...
  18. ncbi request reprint Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Joanne Kotsopoulos
    Centre for Research in Women s Health, Women s College Hospital, University of Toronto, Room 750, 790 Bay Street, 7th Floor, Toronto, ON M5G 1N8, Canada
    Breast Cancer Res Treat 105:221-8. 2007
    ..Nonetheless, BRCA mutation carriers opting for a prophylactic oophorectomy as a breast and/or ovarian cancer risk-reducing strategy should complete childbearing prior to age 40 when this prevention modality is most effective...
  19. pmc Mitochondrial DNA G10398A variant is not associated with breast cancer in African-American women
    Veronica Wendy Setiawan
    Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA
    Cancer Genet Cytogenet 181:16-9. 2008
    ..18, 95% CI = 0.76-1.82, P = 0.46). Our results do not support the hypothesis that the mtDNA G10398A polymorphism is, as has previously been reported, a marker of breast cancer risk in African Americans...
  20. pmc Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study
    Noah D Kauff
    Clinical Genetics and Gynecology Services, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, Box 192, New York, NY 10021, USA
    J Clin Oncol 26:1331-7. 2008
    ....
  21. pmc Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    Am J Hum Genet 82:937-48. 2008
    ....
  22. ncbi request reprint Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study
    Susan M Domchek
    Abramson Cancer Centre, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
    Lancet Oncol 7:223-9. 2006
    ..However, the reduction in mortality after this surgery is unclear. We aimed to assess whether BPSO improves overall mortality or cancer-specific mortality in BRCA1 and BRCA2 mutation carriers...
  23. ncbi request reprint The joint effect of smoking and AIB1 on breast cancer risk in BRCA1 mutation carriers
    Susan Colilla
    Department of Biostatistics and Epidemiology and Medicine and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Carcinogenesis 27:599-605. 2006
    ....
  24. ncbi request reprint Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study
    Andrea Eisen
    Toronto Sunnybrook Regional Cancer Center, Toronto, ON, Canada
    J Clin Oncol 23:7491-6. 2005
    ....
  25. ncbi request reprint Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Steven A Narod
    The Centre for Research on Women s Health, University of Toronto, 790 Bay Street, Toronto, Ontario M5G 1N8, Canada
    J Natl Cancer Inst 94:1773-9. 2002
    ..We examined whether this association is seen in women at high risk of breast cancer because they carry a mutation in one of two breast cancer susceptibility genes, BRCA1 and BRCA2...
  26. ncbi request reprint Prevalence of celiac disease among relatives of sib pairs with celiac disease in U.S. families
    Linda Book
    Division of Pediatric Gastroenterology and Nutrition, Department of PediatricsUniversity of Utah, Salt Lake City, USA
    Am J Gastroenterol 98:377-81. 2003
    ..The aim of our investigation was to estimate the prevalence and relative risk for celiac disease in relatives of two siblings diagnosed with celiac disease...
  27. ncbi request reprint Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group
    Timothy R Rebbeck
    Center for Clinical Epidemiology and Biostatistics, Abramson Family Cancer Research Institute, The University of Pennsylvania, Philadelphia, PA 19104 6021, USA
    J Clin Oncol 22:1055-62. 2004
    ..Thus, we estimated the degree of breast cancer risk reduction after surgery in women who carry these mutations...
  28. ncbi request reprint Pathology of ovarian cancers in BRCA1 and BRCA2 carriers
    Sunil R Lakhani
    The Breakthrough Toby Robins Breast Cancer Research Centre, Institute of Cancer Research, London, United Kingdom
    Clin Cancer Res 10:2473-81. 2004
    ..Our aim was to evaluate the morphologies and immunophenotypes in a large cohort of patients with familial ovarian cancer...
  29. ncbi request reprint Smoking and the risk of breast cancer among carriers of BRCA mutations
    Parviz Ghadirian
    Epidemiology Research Unit, Centre Hospitalier del Universite de Montreal Hotel Dieu, Faculty of Medicine, Universite de Montreal, Montreal, Quebec, Canada
    Int J Cancer 110:413-6. 2004
    ..03; 95% CI 0.83 to l.28) or before the first pregnancy (OR = 1.09; 95% CI = 0.90 to 1.33). In conclusion, contrary to our previous report, smoking does not appear to be a risk factor for breast cancer among carriers of BRCA mutations...
  30. ncbi request reprint Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation
    Andreas Hadjisavvas
    Department of Electron Microscopy and Molecular Pathology, The Cyprus Institute of Neurology and Genetics, POB 23462, 1683 Nicosia, Cyprus
    Cancer Genet Cytogenet 151:152-6. 2004
    ..We conclude that the BRCA2 gene appears to play a more important role in familial breast cancer in the Cypriot population than BRCA1...
  31. pmc The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer
    Esther M John
    Clinical and Genetic Epidemiology Research Branch, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA
    Breast Cancer Res 6:R375-89. 2004
    ....
  32. ncbi request reprint Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations
    Timothy R Rebbeck
    Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia 19104 6021, USA
    N Engl J Med 346:1616-22. 2002
    ..We investigated whether this procedure reduces the risk of cancers of the coelomic epithelium and breast in women who carry such mutations...
  33. ncbi request reprint Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry
    Rita Nanda
    Center for Clinical Cancer Genetics, Section of Hematology Oncology, Department of Medicine, University of Chicago Medical Center, Chicago, Ill 60637 1470, USA
    JAMA 294:1925-33. 2005
    ..Ten years after BRCA1 and BRCA2 were first identified as major breast cancer susceptibility genes, the spectrum of mutations and modifiers of risk among many ethnic minorities remain undefined...
  34. ncbi request reprint Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group
    Timothy R Rebbeck
    Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
    J Clin Oncol 23:7804-10. 2005
    ..Thus, we evaluated whether the breast cancer risk reduction conferred by BPO in BRCA1/2 mutation carriers is altered by use of post-BPO HRT...
  35. ncbi request reprint Hormone replacement therapy and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
    Joanne Kotsopoulos
    Centre for Research in Women s Health, 790 Bay Street, 7th Floor, Women s College Hospital, University of Toronto, Toronto, Ontario, Canada M5G 1N8
    Gynecol Oncol 100:83-8. 2006
    ..This association has not been evaluated in BRCA1 or BRCA2 mutation carriers who face very high lifetime risks of both breast and ovarian cancers...
  36. ncbi request reprint Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Joanne Kotsopoulos
    Centre for Research in Women s Health, University of Toronto, Women s College Hospital, 790 Bay Street, 7th Floor, Totonto, Ontario M5G 1N8, Canada
    Cancer Causes Control 16:667-74. 2005
    ..46; 95% CI 0.30-0.69). This study implicates early age at menarche as a determinant of breast cancer among women with a BRCA1 mutation...
  37. ncbi request reprint A comparison of bilateral breast cancers in BRCA carriers
    Jeffrey N Weitzel
    The Centre for Research in Women s Health, 790 Bay Street, Toronto, Ontario, Canada M5G 1N8
    Cancer Epidemiol Biomarkers Prev 14:1534-8. 2005
    ..It is generally believed that the two cancers represent independent events. However, the extent of concordance between the first and second tumors with respect to hormone receptor expression and other pathologic features is unknown...
  38. ncbi request reprint Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: strong association of IRS1 G972R variant and cancer risk
    Susan L Neuhausen
    Department of Medicine, Division of Epidemiology, University of California Irvine, Irvine, CA 92697 7550, USA
    Prostate 64:168-74. 2005
    ..We hypothesized that functional polymorphisms in INS, IRS1, IRS2, and IGF1 may be associated with prostate cancer...
  39. ncbi request reprint Characterization of common BRCA1 and BRCA2 variants
    Amie M Deffenbaugh
    Myriad Genetic Laboratories, Salt Lake City, UT 84108, USA
    Genet Test 6:119-21. 2002
    ....
  40. doi request reprint Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers
    Tara M Friebel
    Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6021, USA
    Clin Breast Cancer 7:875-82. 2007
    ..The availability of these risk-reduction strategies is an important consideration in the decision to undergo genetic testing...
  41. ncbi request reprint Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations
    Irene L Andrulis
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    Hum Mutat 20:65-73. 2002
    ..It will continue to be important to use complementary methods for mutational analysis...
  42. ncbi request reprint Epidermal transglutaminase deposits in perilesional and uninvolved skin in patients with dermatitis herpetiformis
    Matthew R Donaldson
    J Invest Dermatol 127:1268-71. 2007