Dermatology

David Goldgar, Ph.D.

David GoldgarResearch Professor in Dermatology

  • B.A., 1973, University of Colorado
  • M.S., 1977, Colorado State University
  • Ph.D., 1981, University of Colorado Medical Center

Research Interests

  • Genetics of Psoriasis, Genetic Epidemiology of Breast Cancer, Clinical  Classification of DNA Sequence Variants & Statistical Methods in Genetics.

Selected Publications

  • Feng BJ, Sun L-D, Soltani-Arabshahi R, Bowcock AM, Nair RP, Sutuart P, Elder JT, Schrodi S, Begovich AB, Abecasis GR, Zhang X-J, Callis-Duffin KP, Krueger GG, Goldgar DE. Multiple Loci within the Major Histocompatibility Complex Confer Risk of Psoriasis. PLOS Genetics, 2009; (in press).
  • Nair RP, Duffin KC, Helms C, Ding J, Stuart PE, Goldgar D, Gudjonsson JE, Li Y, Tejasvi T, Feng BJ, Ruether A, Schreiber S, Weichenthal M, Gladman D, Rahman P, Schrodi SJ, Prahalad S, Guthery SL, Fischer J, Liao W, Kwok PY, Menter A, Lathrop GM, Wise CA, Begovich AB, Voorhees JJ, Elder JT, Krueger GG, Bowcock AM, Abecasis GR. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet. 2009; 41(2), 199-204.
  • Antoniou AC, Rookus M, Andrieu N, Brohet R, Chang-Claude J, Peock S, Cook M, Evans DG, Eeles R, Nogues C, Faivre L, Gesta P, van Leeuwen FE, Ausems MG, Osorio A, Caldes T, Simard J, Lubinski J, Gerdes AM, Olah E, Furhauser C, Olsson H, Arver B, Radice P, Easton DF, Goldgar DE. Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study. Cancer Epidemiol Biomarkers Prev. 2009; 18(2), 601-10.
  • Tavtigian SV, Greenblatt MS, Goldgar DE, Boffetta P. Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variaints Working Group. Hum Mutat. 2008; 29(11), 1261-1264.
  • Taviigian SV, Byrnes GB, Goldgar DE, Thomas A. Classification of rare missense substitutions, using risk surfaces, with genetic-and molecular-epidemiology applications. Hum Mutat. 2008; 29(11), 1342-54.
  • Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, Greenblatt MS. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat. 2008; 29(11), 1265-1272.
  • Farrugia DJ, Agarwal MK, Pankratz VS, Deffenbaugh AM, Pruss D, Frye C, Wadum L, Johnson K, Mentlick J, Tavitigian SV, Goldgar DE, Couch FJ. Functional assays for classification of BRCA2 variants of uncertain significance. Cancer Res. 2008; 68(9), 3523-31.
  • Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE. (2008). Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. J Clin Oncol, 26(10), 1657-63.
  • Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE. (2007). A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet, 81(5), 873-83.
  • Feng BJ, Jalbout M, Ayoub WB, Khyatti M, Dahmoul S, Ayad M, Maachi F, Bedadra W, Abdoun M, Mesli S, Hamdi-Cherif M, Boualga K, Bouaouina N, Chouchane L, Benider A, Ben Ayed F, Goldgar D, Corbex M. (2007). Dietary risk factors for nasopharyngeal carcinoma in Maghrebian countries. Int J Cancer, 121(7), 1550-5.
  • Andrieu N, Easton DF, Chang-Claude J, Rookus MA, Brohet R, Cardis E, Antoniou AC, Wagner T, Simard J, Evans G, Peock S, Fricker JP, Nogues C, Van't Veer L, Van Leeuwen FE, Goldgar DE. (2006). 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. J Clin Oncol, 24(21), 3361-6.
  • Andrieu N, Goldgar DE, Easton DF, Rookus M, Brohet R, Antoniou AC, Peock S, Evans G, Eccles D, Douglas F, Nogues C, Gauthier-Villars M, Chompret A, Van Leeuwen FE, Kluijt I, Benitez J, Arver B, Olah E, Chang-Claude J. (2006). Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS). J Natl Cancer Inst, 98(8), 535-44.
  • Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, Tesoriero A, Renard H, Southey M, Hopper JL, Yannoukakos K, Brown M, Easton D, Tavtigian SV, Goldgar D, Spurdle AB. (2006). Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res, 66(4), 2019-27.
  • Antoniou AC, Goldgar DE, Andrieu N, Chang-Claude J, Brohet R, Rookus MA, Easton DF. (2005). A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet Epidemiol, 29(1), 1-11.
  • Wu K, Hinson SR, Ohashi A, Farrugia D, Wendt P, Tavtigian SV, Deffenbaugh A, Goldgar D, Couch FJ. (2005). Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res, 65(2), 417-26.
  • Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ. (2004). Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet, 75(4), 535-44.
  • Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA. (2003). Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res, 63(20), 6643-50.
  • Thompson D, Easton DF, Goldgar DE. (2003). A full-likelihood method for the evaluation of causality of sequence variants from family data. Am J Hum Genet, 73(3), 652-5.
  • Thompson D, Szabo CI, Mangion J, Oldenburg RA, Odefrey F, Seal S, Barfoot R, Kroeze-Jansema K, Teare D, Rahman N, Renard H, Mann G, Hopper JL, Buys SS, Andrulis IL, Senie R, Daly MB, West D, Ostrander EA, Offit K, Peretz T, Osorio A, Benitez J, Nathanson KL, Sinilnikova OM, Olah E, Bignon YJ, Ruiz P, Badzioch MD, Vasen HF, Futreal AP, Phelan CM, Narod SA, Lynch HT, Ponder BA, Eeles RA, Meijers-Heijboer H, Stoppa-Lyonnet D, Couch FJ, Eccles DM, Evans DG, Chang-Claude J, Lenoir G, Weber BL, Devilee P, Easton DF, Goldgar DE, Stratton MR. (2002). 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. Proc Natl Acad Sci U S A, 99(2), 827-31.
  • McKay JD, Lesueur F, Jonard L, Pastore A, Williamson J, Hoffman L, Burgess J, Duffield A, Papotti M, Stark M, Sobol H, Maes B, Murat A, Kaariainen H, Bertholon-Gregoire M, Zini M, Rossing MA, Toubert ME, Bonichon F, Cavarec M, Bernard AM, Boneu A, Leprat F, Haas O, Lasset C, Schlumberger M, Canzian F, Goldgar DE, Romeo G. (2001). Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21. Am J Hum Genet, 69(2), 440-6.
  • Goldgar DE, Easton DF. (1997). Optimal strategies for mapping complex diseases in the presence of multiple loci. Am J Hum Genet, 60(5), 1222-32.
  • Easton DF, Steele L, Fields P, Ormiston W, Averill D, Daly PA, McManus R, Neuhausen SL, Ford D, Wooster R, Cannon-Albright LA, Stratton MR, Goldgar DE. (1997). Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet, 61(1), 120-8
  • Offit K, Gilewski T, McGuire P, Schluger A, Hampel H, Brown K, Swensen J, Neuhausen S, Skolnick M, Norton L, Goldgar D. (1996). Germline BRCA1 185delAG mutations in Jewish women with breast cancer. Lancet, 347(9016), 1643-5.
  • Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Goldgar DE. (1996). The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet, 12(3), 333-7.
  • Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch F, Weber B, Castilla L, Brody L, Friedman L, Ostermeyer E, Szabo C, King MC, Jhanwar S, Offit K, Norton L, Gilewski T, Lubin M, Osborne M, Black D, Boyd M, Steel M, Ingles S, Haile R, Lindblom An, Borg A, Bishop DT, Soloman E, Radice P, Spatti G, Gayther S, Ponder B, Warren W, Stratton M, Liu Q, Fujimura F, Lewis C, Skolnick MH, Goldgar DE. (1995). A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: Implications for presymptomatic testing and screening. Journal of he American Medical Association. 273, 535-541.
  • Wooster R, Neuhausen S, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, Fields P, Marshall G, Narod S, Lenoir G, Lynch H, Feunteun J, Devilee P, Cornelisse CJ, Menko FH, Daly PA, Ormiston W, McManus R, Pye C, Lewis C, Cannon-Albright L, Peto J, Ponder BAJ, Skolnick MH, Easton DF, Goldgar DE, Stratton MR. Localization of a breast cancer susceptibility gene, (BRCA2), to chromosome 13q 12-13. (1994). Science, 265, 2088-2090.
  • Stratton MR, Ford D, Neuhausen S, Seal S, Wooster R, Friedman LS, King M-C, Egilsson V, Devilee P, McMarus R, Daly PA, Smith E, Ponder BAJ, Peto J, Cannon-Albright L, Easton D, Goldgar D. (1994). Familial male breast cancer is not linked to BRCA1 locus on chromosome 17q. Nature Genetics, 7, 103-106.
  • Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH. (1994). Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst, 86(21), 1600-8.
  • Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW, Hegi ME, Wiseman RW, Petty EM, Bale AE, et al. (1992). Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science, 258(5085), 1148-52.
  • Goldgar DE, Cannon-Albright LA, Meyer LJ, Piepkorn MW, Zone JJ, Skolnick MH. (1991). Inheritance of nevus number and size in melanoma and dysplastic nevus syndrome kindreds. J Natl Cancer Inst, 83(23), 1726-33.
  • Goldgar DE. (1990). Multipoint analysis of human quantitative genetic variation. Am J Hum Genet, 47(6), 957-67.