Elizabeth C. Chao

Assistant Adjunct Professor, Pathology
School of Medicine

Director, Molecular Genetics, Pediatrics
School of Medicine

M.D., University of California, Irvine

FACMG, Children's Hospital of Philadelphia, Clinical Molecular Genetics

Phone: (949) 824-1886
Fax: 949-824-3007
Email: ecchao@uci.edu

University of California, Irvine


picture of Elizabeth C. Chao

Clinical Genomics, Whole Exome Seqeuncing, Variant classification, Cancer Genetics
URLs MitoMed Diagnostic Laboratory
Classification of VUS in Lynch Syndrome: MAPP-MMR scores
Publications Leedom, T., LaDuca, H., MacFarland, R., Li, S. Chao, E.C. Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers Cancer Genetics, In Press
  Farwell, K. Chao, E.C., Tang, S. The evaluation of the molecular basis of disease (EMBoDy) for clinical reporting: Diagnostic exome sequencing identifies a novel genetic etiology among 8% of patients with undiagnosed diseases, Genetics in Medicine, In Press
  LaDuca, H., Stuenkel, A.J., Keiles, S., Tandy, S., Peseran, T., Chen, E., Gau, C., Palmaer, E., Shoaepour, K., Shah, D., Speare, V., Dolinsky, J.S., Gandomi, S., Chao, E. Utilization of Multi-gene Panels in Hereditary Cancer Predisposition Testing: Analysis of Over 2000 Patients Genetics in Medicine, 2014 Nov;16(11):830-7.
  Chong, H.K, Wang, T., Lu, H.M., Seidler, S., Lu, H., Keiles, S., Chao, E.C., Stueknkel, A.J., Li, X., Elliott, A.M., The validation and clinical implementation of BRCAplus: a comprehensive high risk breast cancer diagnostic assay, PLoS ONE, 2014 May 15;9(5):e97408
  Cragun, D. Radford, C., Dolinsky, J.S., Caldwell, M., Chao, E., Pal, T. Panel-Based Testing for Inherited Colorectal Cancer: A descriptive study of clinical testing performed by a U.S. Laboratory. Clinical Genetics, 2014 Feb 9.
  de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K49, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet. 2016 Mar 23
  Varga E., Chao, E.C., Yeager, N.D. The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance, Fam Cancer. 2015 Feb 25.
  Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ, Congenital Lethal Motor Neuron Disease with a Novel Defect in Ribosome Biogenesis Neurology, 2014 Mar 19.
  Bakry D, Aronson M, Durno C, Rimawi H, Farah R, Alharbi QK, Alharbi M, Shamvil A, Ben-Shachar S, Mistry M, Constantini S, Dvir R, Qaddoumi I, Gallinger S, Lerner-Ellis J, Pollett A, Stephens D, Kelies S, Chao E, Malkin D, Bouffet E, Hawkins C, Tabori U. Genetic and clinical determinants of Constitutional Mismatch Repair Deficiency syndrome: Report from the CMMRD consortium European Journal of Cancer, 2014 Mar;50(5):987-96.
  Alamillo, C.L., Powis, Z., Farwell, K., Shahmirzhadi, L. Weltmer, E.C. Turocy, J., Konelka, C., Chen, E., Ashkinadze, E., D’augelli, L., Chao, E., Tang, S., Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. Prenat Diagn. 2015 Jul 5.
  Farwell, KD, Shahmirzhadi, L., El-Kechen, D., Powis, A.z, Chao, E.C., Zeng, W., Moske, C., Parra, M., Gandomi, S.K., Lu, I., Li, X., Lu, H., Lu, H.M., Slavador, D., Lao, M., Fishback, S., Wen, J., Lee, S., Elliott, A., Dunlop, C., Tang, S. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions, Genetics in Medicine, 2014 Nov 6
  Cohen J.S., Shrivistava, S., Farwell, K.D., Lu, H.M., Zeng, Wl., Lu, H., Chao, E.C., Fatemi, A. ELP2 is a novel gene implicated in neurodevelopmental disabilities, Am J Med Genet A. 2015 Apr 2.
  Hernandez F., Huether R., Carter L., Johnston T., Thompson J., Gossage J.R., Chao E., Elliott A.M. Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia. Hum Genome Var. 2015 Nov 5.
  Farwell, K.D., Li, X., Lu, H.M., Pellegrino, J.E., Miller, R.T., Zeng, W., Chao, E.C. Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes JIMD Rep. 2015;15:29-37.
  Shahmirzadi, L. Chao, E.C., Parra, M.C., Tang, S., Gonzalez, K.D. Patient Decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing. Genetics in Medicine 2013 Oct10
  Minion, L., Dolinsky, J.S., Chase, D.M., Dunlop, C.L., Chao, E.C., Monk, B. J., Hereditary Predisposition to Ovarian Cancer, Looking beyond BRCA1/2,Gynecologic Oncology 2015 Jan 23.
  Chao E. et al., Clinical Exome: The Brass Ring of Molecular Testing, Advance for Administrators of the Laboratory, 2012 Sep; 21(9)56.
  Chao, E.C., Ng, P., Velasquez, J, Rozek, L., Peel, D., Gruber, S.B., Watson, P., Rennert, G., Anton-Culver, H., Lynch, H., and Lipkin, S.M., Accurate classification oh MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR), Human Mutation, 2008 Jun;29(6):852-60.
  Lipkin, S.M., Chao, E.C., Moreno, V., Rozek, L.S., Rennert H, Pinchev, M., Dizon, D., Rennert, G., Kopelovich, L., and Gruber, S. Genetic Variation in 3-Hydroxy-3-Methylglutaryl CoA Reductase Modifies the Chemopreventive Activity of Statins for Colorectal Cancer, Cancer Prevention Research, 2010 May;3(5):597-603
  Richards-Yutz, J., Grant, K., Chao, E.C., Walther, S., and Ganguly, A,. Update on Molecular Diagnosis of Hereditary Hemorrhagic Telangiectasia, Human Genetics, 2010 Jul;128(1):61-77.
  Chao (Hyman), E., Kauraniemi, P., Hautaniemi, S., Wolf, M., Mousses, S., Rozenblum, E., Ringner, M., Sauter, G., Monni, O., Elkhaloun, A., Kallioniemi, A., Kallioniemi, O. Impact of DNA amplification on gene expression patterns in breast cancer, Cancer Research, 2002 Nov 1;62(21):6240-5.
Grant Institute for Clinical and Translational Science Pilot Grant, 2011-2013 Nucleosome-protected DNA in serum and urine as a marker of prostate malignancy and recurrence
American Society for Human Genetics
Fellow, American College of Medical Genetics
Other Experience Medical Director
Ambry Genetics 2011—2016

Graduate Programs Medical Genetics

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Last updated 08/31/2016