David E Goldgar

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. ncbi request reprint Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study
    Jenny Chang-Claude
    Division of Cancer Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 280 69120 Heidelberg, Germany
    Cancer Epidemiol Biomarkers Prev 16:740-6. 2007
  2. pmc A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
    Douglas F Easton
    Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge, UK
    Am J Hum Genet 81:873-83. 2007
  3. pmc Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
    David E Goldgar
    Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah 84132 2409, USA
    Hum Mutat 29:1265-72. 2008
  4. pmc A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Nat Genet 42:885-92. 2010
  5. pmc A PALB2 mutation associated with high risk of breast cancer
    Melissa C Southey
    Department of Pathology, The University of Melbourne, Victoria 3010, Australia
    Breast Cancer Res 12:R109. 2010
  6. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
  7. pmc FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets
    Bernard J Pope
    Victorian Life Sciences Computation Initiative, The University of Melbourne, 187 Grattan Street Carlton, Melbourne, Victoria 3010, Australia
    BMC Bioinformatics 14:65. 2013
  8. pmc Risk of pancreatic cancer in breast cancer families from the breast cancer family registry
    Evelina Mocci
    Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, Spain
    Cancer Epidemiol Biomarkers Prev 22:803-11. 2013
  9. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
  10. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011

Detail Information

Publications46

  1. ncbi request reprint Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study
    Jenny Chang-Claude
    Division of Cancer Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 280 69120 Heidelberg, Germany
    Cancer Epidemiol Biomarkers Prev 16:740-6. 2007
    ..Early menarche and late menopause are important risk factors for breast cancer, but their effects on breast cancer risk in BRCA1 and BRCA2 carriers are unknown...
  2. pmc A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
    Douglas F Easton
    Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge, UK
    Am J Hum Genet 81:873-83. 2007
    ..In addition to their utility for improved genetics counseling of patients and their families, the global assessment reported here will be invaluable for validation of functional assays, structural models, and in silico analyses...
  3. pmc Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
    David E Goldgar
    Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah 84132 2409, USA
    Hum Mutat 29:1265-72. 2008
    ..Further, we discuss some of the issues involved in this process and the assumptions that underpin many of the methods used in the evaluation process...
  4. pmc A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Nat Genet 42:885-92. 2010
    ..80, 95% CI 0.74-0.87, P(trend) = 1.1 × 10⁻⁷..
  5. pmc A PALB2 mutation associated with high risk of breast cancer
    Melissa C Southey
    Department of Pathology, The University of Melbourne, Victoria 3010, Australia
    Breast Cancer Res 12:R109. 2010
    ..Little is known about by how much or whether risk differs by mutation or family history, owing to the paucity of studies of cases unselected for family history...
  6. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
    ..2)...
  7. pmc FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets
    Bernard J Pope
    Victorian Life Sciences Computation Initiative, The University of Melbourne, 187 Grattan Street Carlton, Melbourne, Victoria 3010, Australia
    BMC Bioinformatics 14:65. 2013
    ..Great challenges remain in resolving genetic variants that are genuine from the millions of artefactual signals...
  8. pmc Risk of pancreatic cancer in breast cancer families from the breast cancer family registry
    Evelina Mocci
    Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, Spain
    Cancer Epidemiol Biomarkers Prev 22:803-11. 2013
    ..The aim of this study was to estimate pancreatic cancer risk in high-risk breast cancer families according to the BRCA mutation status...
  9. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
    ..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
  10. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011
    ..To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens...
  11. pmc Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry
    Letitia D Smith
    Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Melbourne, Victoria 3010, Australia
    Breast Cancer Res 13:R14. 2011
    ..We sought to test the value of selecting women for BRCA1 mutation testing on the basis of family history and/or breast tumour morphology criteria as well as the value of testing for large genomic alterations in BRCA1...
  12. 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
    ....
  13. pmc Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies
    Anna Gonzalez-Neira
    Genotyping Unit, CeGen, Human Cancer Genetics Programme, Spanish National Cancer Centre, Spain
    BMC Genomics 8:299. 2007
    ....
  14. doi request reprint Association between IL13 polymorphisms and psoriatic arthritis is modified by smoking
    Kristina Callis Duffin
    Department of Dermatology, University of Utah School of Medicine, 30 North 1900 East, Salt Lake City, Utah 84132, USA
    J Invest Dermatol 129:2777-83. 2009
    ..88, P=0.74, CC/non-smoker, prevalence 42% (reference), CC/smoker prevalence 47%, OR 1.21, P=0.47). This study suggests that IL13 polymorphisms associate most strongly with PsA and that smoking may modulate this effect...
  15. doi request reprint Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK
    Cancer Epidemiol Biomarkers Prev 18:601-10. 2009
    ..However, their effect on ovarian cancer risk for BRCA1 and BRCA2 mutation carriers has only been investigated in a small number of studies...
  16. pmc Rare variants in the ATM gene and risk of breast cancer
    David E Goldgar
    Department of Dermatology, University of Utah School of Medicine, 30 N 1900 E, Salt Lake City, UT 84132 2101, USA
    Breast Cancer Res 13:R73. 2011
    ..However, the magnitude of risk and the subset of variants that are pathogenic for breast cancer remain unresolved...
  17. pmc Design considerations for massively parallel sequencing studies of complex human disease
    Bing Jian Feng
    Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, United States of America
    PLoS ONE 6:e23221. 2011
    ..Further, our results suggest that although no single strategy is optimal, simulations can provide important guidelines for study design...
  18. pmc A genome wide linkage search for breast cancer susceptibility genes
    Paula Smith
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Genes Chromosomes Cancer 45:646-55. 2006
    ..They also indicate that no single gene is likely to account for a large fraction of the familial aggregation of breast cancer that is not due to mutations in BRCA1 or BRCA2...
  19. doi request reprint Obesity in early adulthood as a risk factor for psoriatic arthritis
    Razieh Soltani-Arabshahi
    Department of Dermatology, University of Utah School of Medicine, 30 North 1900 East, Salt Lake City, UT 84132, USA
    Arch Dermatol 146:721-6. 2010
    ..To study whether obesity increases the risk of psoriatic arthritis (PsA), given that obesity is a risk factor for psoriasis and is associated with more severe disease...
  20. doi request reprint Immunohistochemical staining with Melan-A of uninvolved sun-damaged skin shows features characteristic of lentigo maligna
    Anneli R Bowen
    Department of Dermatology, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA
    Dermatol Surg 37:657-63. 2011
    ....
  21. ncbi request reprint A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, United Kingdom
    Genet Epidemiol 29:1-11. 2005
    ..The power to detect associations is, however, reduced compared with an unweighted approach...
  22. pmc Trend-TDT - a transmission/disequilibrium based association test on functional mini/microsatellites
    Bing Jian Feng
    Department of Dermatology, University of Utah School of Medicine, Salt Lake City, USA
    BMC Genet 8:75. 2007
    ..Here we propose a new method to assess the linear trend toward transmission of shorter or longer alleles from heterozygote parents to affected child...
  23. pmc Multiple Loci within the major histocompatibility complex confer risk of psoriasis
    Bing Jian Feng
    Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT, USA
    PLoS Genet 5:e1000606. 2009
    ..These results demonstrate that there are at least two additional loci within the MHC conferring risk of psoriasis...
  24. pmc Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium
    Deborah Thompson
    CRC Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge CB1 4RN, United Kingdom
    Proc Natl Acad Sci U S A 99:827-31. 2002
    ..65 was -11.0]. We conclude that, if a susceptibility gene does exist at this locus, it can only account for a small proportion of non-BRCA1/2 families with multiple cases of early-onset breast cancer...
  25. pmc Functional assays for classification of BRCA2 variants of uncertain significance
    Daniel J Farrugia
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Cancer Res 68:3523-31. 2008
    ....
  26. doi request reprint Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach
    Marc Tischkowitz
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    Eur J Hum Genet 16:820-32. 2008
    ....
  27. ncbi request reprint Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 115, Poland
    Cancer Epidemiol Biomarkers Prev 12:457-9. 2003
    ..07-0.62; P = 0.0015). This finding suggests that RAD51 is a genetic modifier of breast cancer risk in BRCA1 carriers in the Polish population. It will be of interest to confirm this in other populations as well...
  28. doi request reprint Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators
    Amanda B Spurdle
    Queensland Institute of Medical Research, c o Royal Brisbane Hospital Post Office, Herston, Queensland 4029, Australia
    J Clin Oncol 26:1657-63. 2008
    ..We assessed the value of tumor immunohistochemical markers in conjunction with genetic and evolutionary approaches for investigating the clinical significance of unclassified variants...
  29. ncbi request reprint Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility
    Olga M Sinilnikova
    International Agency for Research on Cancer, 150, cours A Thomas, 69372 Lyon, France
    Carcinogenesis 25:2417-24. 2004
    ....
  30. ncbi request reprint Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene
    David J Hughes
    International Agency for Research on Cancer, Lyon, France
    Int J Cancer 117:230-3. 2005
    ....
  31. pmc Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)
    Nadine Andrieu
    INSERM, Emi00 06, Service de Biostatistique, Institut Curie, 26 Rue d Ulm, 75248 Paris Cedex 05, France
    J Natl Cancer Inst 98:535-44. 2006
    ..Because mammary gland cells divide and differentiate during pregnancy, reproductive factors may influence breast cancer risk in BRCA1/2 mutation carriers differently than they do in noncarriers...
  32. pmc Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India
    Sunita Saxena
    Institute of Pathology, Safdarjang Hospital Campus, New Delhi, India
    BMC Med Genet 7:75. 2006
    ..We investigated the distribution and the nature of BRCA1 and BRCA2 germline mutations and polymorphisms in a cohort of 204 Indian breast cancer patients and 140 age-matched controls...
  33. 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...
  34. ncbi request reprint BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico
    Pablo Ruiz-Flores
    Departamento de Bioquimica, Facultad de Medicina, Universidad Autonoma de Nuevo Leon, Monterrey, Mexico
    Hum Mutat 20:474-5. 2002
    ..The majority of the alterations appeared to be distinct, with only one of them being observed in more than one family...
  35. ncbi request reprint BRCA1 and BRCA2 in Indian breast cancer patients
    Sunita Saxena
    Institute of Pathology, Safdarjang Hospital Campus, New Delhi, India
    Hum Mutat 20:473-4. 2002
    ..In addition, two BRCA2 missense variants were each identified in more than one patient (two unrelated individuals each) and likely represent population-specific polymorphisms...
  36. ncbi request reprint Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group
    Richard M Brohet
    Netherlands Cancer Institute, Department of Epidemiology, Amsterdam, The Netherlands
    J Clin Oncol 25:3831-6. 2007
    ..However, duration of use, especially before first full-term pregnancy, may be associated with an increasing risk of breast cancer among both BRCA1 and BRCA2 mutation carriers...
  37. ncbi request reprint Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients
    Xiaoye Schneider-Yin
    Zentrallabor, Stadtspital Triemli, Zurich, Switzerland
    Hum Hered 54:69-81. 2002
    ..Around 550 years ago, a recombination event occurred between intron 3 and 10 of the PBGD gene which resulted in the [C-A-A-A-G-C-W283X-G] haplotype only found in a restricted region...
  38. pmc A full-likelihood method for the evaluation of causality of sequence variants from family data
    Deborah Thompson
    International Agency for Research on Cancer, Lyon, France
    Am J Hum Genet 73:652-5. 2003
    ..We further show that it is important that the pedigree information be as complete as possible and that the distinction be made between unaffected individuals and those of unknown phenotype...
  39. ncbi request reprint The effect of disease penetrance, family size, and age of onset on family history with application to setting eligibility criteria for genetic testing
    Alexandre Sibert
    Unit of Genetic Epidemiology, International Agency for Research on Cancer, Lyon, France
    Fam Cancer 2:35-42. 2003
    ....
  40. ncbi request reprint Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?
    Csilla I Szabo
    International Agency for Research on Cancer, Lyon, France
    Cancer Res 64:840-3. 2004
    ..008. We conclude that the ATM IVS10-6T-->G mutation does not confer a significantly elevated breast cancer risk and that ATM 7271T-->G is a rare event in familial breast cancer...
  41. pmc Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2
    David E Goldgar
    International Agency for Research on Cancer, Lyon, France
    Am J Hum Genet 75:535-44. 2004
    ..These results provide a demonstration of the utility of the model...
  42. ncbi request reprint Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers
    David J Hughes
    Unit of Genetic Epidemiology, IARC, 150, cours Albert Thomas, 69372 Lyon Cedex 08, France
    Cancer Epidemiol Biomarkers Prev 14:265-7. 2005
    ..We conclude that if these single-nucleotide polymorphisms do modify the risk of cancer in BRCA1 mutation carriers, their effects are not significantly larger than that of N372H previously observed in the general population...
  43. ncbi request reprint Effect of chest X-rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators' Group
    Nadine Andrieu
    Institut National de la Santé et de la Recherche Médicale Emi00 06, Paris, France
    J Clin Oncol 24:3361-6. 2006
    ..Because of the role of the BRCA proteins in DNA repair, we hypothesized that BRCA carriers might be more sensitive to ionizing radiation than women in the general population...
  44. pmc An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
    Georgia Chenevix-Trench
    Queensland Institute for Medical Research, Brisbane, Australia
    Breast Cancer Res 9:104. 2007
    ....
  45. ncbi request reprint Is MSH2 a breast cancer susceptibility gene?
    Ee Ming Wong
    Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne 3010, Australia
    Fam Cancer 7:151-5. 2008
    ..Extensive screening of 59 multiple-case breast cancer families did not identify any coding region mutations or larger genomic alterations in MSH2 that might implicate MSH2 as a breast cancer susceptibility gene...
  46. ncbi request reprint Prevalence of the BRCA2 6174 del T mutation in Israeli uveal melanoma patients
    Jose Iscovich
    Selikoff Center for Environmental Health and Human Development and the International Fertility Institute, Ra anana, Israel
    Int J Cancer 98:42-4. 2002
    ..Therefore, BRCA2 mutations are likely to account for an even smaller proportion in populations with low frequencies of BRCA2 alterations...