Research Topics
Genomes and GenesSpecies | David E GoldgarSummaryAffiliation: University of Utah Country: USA Publications
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Publications
Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort StudyJenny 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...
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genesDouglas 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...- Genetic evidence and integration of various data sources for classifying uncertain variants into a single modelDavid 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... - 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 populationAntonis 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.. - A PALB2 mutation associated with high risk of breast cancerMelissa 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... 
Risk of pancreatic cancer in breast cancer families from the breast cancer family registryEvelina Mocci
Corresponding Author David E Goldgar, Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132
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...- 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 BRCA1/2Anna 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... - Exploring the link between MORF4L1 and risk of breast cancerGriselda 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... - 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 RegistryLetitia 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... - 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.... - Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studiesAnna Gonzalez-Neira
Genotyping Unit, CeGen, Human Cancer Genetics Programme, Spanish National Cancer Centre, Spain
BMC Genomics 8:299. 2007.... - Association between IL13 polymorphisms and psoriatic arthritis is modified by smokingKristina 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... - Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort StudyAntonis 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... - Rare variants in the ATM gene and risk of breast cancerDavid 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... - Design considerations for massively parallel sequencing studies of complex human diseaseBing 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... - Obesity in early adulthood as a risk factor for psoriatic arthritisRazieh 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... - A genome wide linkage search for breast cancer susceptibility genesPaula 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... - Immunohistochemical staining with Melan-A of uninvolved sun-damaged skin shows features characteristic of lentigo malignaAnneli R Bowen
Department of Dermatology, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA
Dermatol Surg 37:657-63. 2011.... - A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genesAntonis 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... - Trend-TDT - a transmission/disequilibrium based association test on functional mini/microsatellitesBing 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... - Multiple Loci within the major histocompatibility complex confer risk of psoriasisBing 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... - Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage ConsortiumDeborah 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... - Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in PolandAnna 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... - Functional assays for classification of BRCA2 variants of uncertain significanceDaniel J Farrugia
Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Cancer Res 68:3523-31. 2008.... - Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab InvestigatorsAmanda 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... - Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approachMarc Tischkowitz
Department of Oncology, McGill University, Montreal, Quebec, Canada
Eur J Hum Genet 16:820-32. 2008.... - Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern IndiaSunita 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... - 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 GroupRichard 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... - BRCA1 and BRCA2 in Indian breast cancer patientsSunita 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... - BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in MexicoPablo 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... - Risks of cancer due to a single BRCA1 mutation in an extended Utah kindredFlorian 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... - Acetyl-CoA carboxylase alpha gene and breast cancer susceptibilityOlga M Sinilnikova
International Agency for Research on Cancer, 150, cours A Thomas, 69372 Lyon, France
Carcinogenesis 25:2417-24. 2004.... - 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... - Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 geneDavid J Hughes
International Agency for Research on Cancer, Lyon, France
Int J Cancer 117:230-3. 2005.... - 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... - A full-likelihood method for the evaluation of causality of sequence variants from family dataDeborah 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... - Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patientsXiaoye 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... - The effect of disease penetrance, family size, and age of onset on family history with application to setting eligibility criteria for genetic testingAlexandre Sibert
Unit of Genetic Epidemiology, International Agency for Research on Cancer, Lyon, France
Fam Cancer 2:35-42. 2003.... - 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... - Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2David 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... - Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriersDavid 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... - 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' GroupNadine Andrieu
, Paris, France
J Clin Oncol 24:3361-6. 2006..If confirmed, the results have important implications for the use of x-ray imaging in young BRCA1/2 carriers... - 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.... - Prevalence of the BRCA2 6174 del T mutation in Israeli uveal melanoma patientsJose 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...