Research Topics
Species | David E GoldgarSummaryAffiliation: International Agency for Research on Cancer Country: France Publications
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Detail Information
Publications
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...- Linkage analysis of complex diseases using microsatellites and single-nucleotide polymorphisms: application to alcoholismJeremie Nsengimana
Genetic Epidemiology Group, International Agency for Research on Cancer, World Health Organization, 150 cours Albert Thomas, 69008 Lyon, France
BMC Genet 6:S10. 2005..The power and accuracy of 1 SNP/cM or 1 SNP/2 cM may be sufficient in a genome-wide linkage scan while denser maps may be most useful in fine-gene mapping studies exploiting linkage disequilibrium... - Optimal strategies for mapping complex diseases in the presence of multiple lociD E Goldgar
Unit of Genetic Epidemiology, International Agency for Research on Cancer, Lyon, France
Am J Hum Genet 60:1222-32. 1997..We also demonstrate that prescreening the sample of families for mutations at known susceptibility loci is, in general, a cost-effective strategy... - 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... - Population aspects of cancer geneticsD E Goldgar
International Agency for Research on Cancer, 150, cours Albert Thomas, 69008 Lyon, France
Biochimie 84:19-25. 2002..The potential role of lower-penetrance genes in the overall cancer burden may be significant but may pose significant problems in the public health arena... - 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.... - Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applicationsSean V Tavtigian
International Agency for Research on Cancer IARC, Lyon, France
Hum Mutat 29:1342-54. 2008.... - 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... - 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... - 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.... - Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVsMaxime P Vallée
International Agency for Research on Cancer, Lyon, France
Hum Mutat 33:22-8. 2012..The database is available at http://brca.iarc.fr/LOVD... - 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.... - Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotypeMagali Olivier
IARC, Lyon, Cedex 8, France
Cancer Res 63:6643-50. 2003..004). These observations have clinical implications for genetic testing and tumor surveillance in LFS/LFL families... - 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... - 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.... - 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... - 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 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... - 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.... - 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.... - 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.... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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...