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Epidemiology and Genomics Research Program

Stefanie A. Nelson, PhD

Program Director
Genomic Epidemiology Branch, Epidemiology and Genomics Research Program

Telephone: (240) 276-6944

  • PhD - Human Genetics, University of Michigan at Ann Arbor
  • BS - Microbiology, University of Illinois at Urbana-Champaign
Contact for questions about:
  • Functional genomics
  • Hormone related cancers
  • Integration of germline and somatic information
  • Mammographic breast density
  • Rare cancers


Stefanie Nelson, PhD, is a program director in the Genomic Epidemiology Branch (GEB) of the Epidemiology and Genomics Research Program (EGRP) in NCI's Division of Cancer Control and Population Sciences (DCCPS). Her responsibilities include developing and managing a portfolio of grants that focuses on host factors affecting cancer risk. Dr. Nelson's research interests include understanding the function of cancer risk variants and integrating germline and tumor genomic data to better understand risk and carcinogenesis.

Dr. Nelson is the DCCPS representative to NCI’s Innovative Molecular Analysis Technologies (IMAT) program. She is the program coordinator for the Breast Cancer Family Registry. She is also a member of the DCCPS Data Strategies Scientific Priority Working Group.

Dr. Nelson came to EGRP from The Scientific Consulting Group, Inc., where she was a research associate. In this capacity, she provided scientific support to several DCCPS programs, NCI's Division of Cancer Prevention (DCP), and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). She previously worked as a scientist at Meso Scale Discovery, where she identified novel activators and inhibitors of nuclear-factor kappa ß (NF-Kß) and developed assays to detect transcription factor and steroid hormone receptor DNA binding using the company's electrochemiluminescent detection technology. Earlier in her career, Dr. Nelson was a postdoctoral fellow in NCI's Laboratory of Cellular and Molecular Biology, where she studied signal transduction by growth factors implicated in cancer and identified new genes in growth factor signaling pathways.

Select Publications

Chao BN, Carrick DM, Filipski KK, Nelson SA. Overview of Research on Germline Genetic Variation in Immune Genes and Cancer Outcomes. Cancer Epidemiol Biomarkers Prev. 2022 Mar 1;31(3):495-506.

Gallicchio L, Daee DL, Rotunno M, Barajas R, Fagan S, Carrick DM, Divi RL, Filipski KK, Freedman AN, Gillanders EM, Lam TK, Martin DN, Rogers S, Verma M, Nelson SA. Epidemiologic Research of Rare Cancers: Trends, Resources, and Challenges. Cancer Epidemiol Biomarkers Prev. 2021 Jul;30(7):1305-1311.

Amos CI, Dennis J, Wang Z, Byun J, Schumacher FR, Gayther SA, Casey G, Hunter DJ, Sellers TA, Gruber SB, Dunning AM, Michailidou K, Fachal L, Doheny K, Spurdle AB, Li Y, Xiao X, Romm J, Pugh E, Coetzee GA, Hazelett DJ, Bojesen SE, Caga-Anan C, Haiman CA, Kamal A, Luccarini C, Tessier D, Vincent D, Bacot F, Van Den Berg DJ, Nelson S, Demetriades S, Goldgar DE, Couch FJ, Forman JL, Giles GG, Conti DV, Bickeböller H, Risch A, Waldenberger M, Brüske-Hohlfeld I, Hicks BD, Ling H, McGuffog L, Lee A, Kuchenbaecker K, Soucy P, Manz J, Cunningham JM, Butterbach K, Kote-Jarai Z, Kraft P, FitzGerald L, Lindström S, Adams M, McKay JD, Phelan CM, Benlloch S, Kelemen LE, Brennan P, Riggan M, O'Mara TA, Shen H, Shi Y, Thompson DJ, Goodman MT, Nielsen SF, Berchuck A, Laboissiere S, Schmit SL, Shelford T, Edlund CK, Taylor JA, Field JK, Park SK, Offit K, Thomassen M, Schmutzler R, Ottini L, Hung RJ, Marchini J, Amin Al Olama A, Peters U, Eeles RA, Seldin MF, Gillanders E, Seminara D, Antoniou AC, Pharoah PD, Chenevix-Trench G, Chanock SJ, Simard J, Easton DF. The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers. Cancer Epidemiol Biomarkers Prev. 2017 Jan;26(1):126-135.

Feigelson HS, Goddard KA, Hollombe C, Tingle SR, Gillanders EM, Mechanic LE, Nelson SA. Approaches to integrating germline and tumor genomic data in cancer research. Carcinogenesis. 2014 Oct;35(10):2157-63.

Verma M, Rogers S, Divi RL, Schully SD, Nelson S, Joseph Su L, Ross SA, Pilch S, Winn DM, Khoury MJ. Epigenetic research in cancer epidemiology: trends, opportunities, and challenges. Cancer Epidemiol Biomarkers Prev. 2014 Feb;23(2):223-33.

Weil CJ, Mechanic LE, Green T, Kinsinger C, Lockhart NC, Nelson SA, Rodriguez LL, Buccini LD. NCI think tank concerning the identifiability of biospecimens and "omic" data. Genet Med. 2013 Dec;15(12):997-1003.

Freedman AN, Sansbury LB, Figg WD, Potosky AL, Weiss Smith SR, Khoury MJ, Nelson SA, Weinshilboum RM, Ratain MJ, McLeod HL, Epstein RS, Ginsburg GS, Schilsky RL, Liu G, Flockhart DA, Ulrich CM, Davis RL, Lesko LJ, Zineh I, Randhawa G, Ambrosone CB, Relling MV, Rothman N, Xie H, Spitz MR, Ballard-Barbash R, Doroshow JH, Minasian LM. Cancer pharmacogenomics and pharmacoepidemiology: setting a research agenda to accelerate translation. J Natl Cancer Inst. 2010 Nov 17;102(22):1698-705.