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Susan L. Neuhausen

picture of Susan L. Neuhausen

Professor, Epidemiology
School of Medicine
Associate Director, UC Irvine, Genetic Epidemiology Research Institute
Professor, Pediatrics
School of Medicine

Ph.D., University of Minnesota, Genetics and Plant Breeding

Phone: (949) 824-5769
Fax: (949) 824-8482

University of California, Irvine
218 Sprague Hall (Office)
224 Irvine Hall (Mail)
Mail Code: 7550
Irvine, CA 92697
Research Interests
Genetic epidemiology, genetic susceptibility, genetic predisposition, breast cancer, celiac disease, prostate cancer, cancer genetics
Research Abstract
Dr. Neuhausen’s research is focused on identifying genes that cause and/or increase susceptibility to disease. She is actively directing several research projects, with primary emphasis on breast cancer and celiac disease. In addition, she is collaborating with Dr. Aviv at the University of Medicine and Dentistry of New Jersey, Dr. Schork at Scripps, and Dr. Hunt at the University of Utah to investigate the genetics of telomere length (related to aging and cancer) and the genetics of the sodium lithium countertransport (an intermediate phenotype for hypertension). These studies are all made possible by external funding, primarily NIH grants. In order to perform this research, Dr. Neuhausen has sought out and established collaborations with distinguished researchers around the world including a recently completed a DAMD-funded study of prostate cancer.

In particular, her cancer projects are focused on identifying genetic and environmental (lifestyle/diet) factors that affect risk of developing cancer and cancer aggressiveness. In breast cancer, Dr. Neuhausen is conducting three studies to investigate genetic variation in genes in the insulin-like growth factor (IGF) pathway and their association with breast cancer. The first study is targeted to African-American women, and this study is the first to report associations between genetic variants in IGFBP2 and IGFBP5 and breast cancer risk, and provide evidence that genetic variation in the IGF signaling pathway plays a role in risk of breast cancer. The second study is an international cohort study of women who carry mutations in BRCA1 and BRCA2, two genes that markedly increase the risk of breast and ovarian cancers. Because women who carry these mutations are at such high risk of developing breast cancer, they have also been investigating the effects of prophylactic oophorectomies, hormone replacement therapy, and reproductive and lifestyle factors to reduce risk of developing the disease. The third study investigates 45 genes in the IGF pathways in a case-control design of 3000 sister pairs. The hope is that results from these studies will provide an expanded model of genetic and lifestyle risk factors that contribute to breast cancer development. This information can then be used to assist clinicians and their patients in more accurately assessing their breast cancer risks and in designing effective preventative strategies. For women who develop cancer, these data will help to target treatments. Lastly, it will provide important knowledge for biologic and clinical insights leading to fruitful research initiatives in the future. The long-term goals are to reduce the morbidity and mortality from breast cancer.

Dr. Neuhausen is attempting to identify genes that cause the celiac disease in order to provide the foundation for therapeutics and prevention of the isease. Celiac disease is a common disease in the United States, with a frequency of almost 1%. In addition to her work to identify genes that predispose to celiac disease, she is interested in better understanding why symptoms of celiac disease differ among celiacs and how to better diagnose individuals without the necessity for an invasive, small intestinal biopsy.
Garner CP, Ding YC, John EM, Ingles SA, Olopade OI, Huo D, Adebamowo C, Ogundiran T, Neuhausen SL. Genetic variation in IGFBP2 and IGFBP5 is associated with breast cancer in populations of African descent. Human Genetics: In Press.
Antoniou AA, Olga M. Sinilnikova OM, Jacques Simard J, Mélanie Léoné M, Martine Dumont M, Neuhausen SL, … and Georgia Chenevix-Trench on behalf of the Consortium of Investigators of Modifiers of BRCA1/2. (2007) RAD51 135G>C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 81, 1186-1200.
Ding YC, Weizman Z, Yerushalmi B, Elbedour K, Garner CP, Neuhausen SL. (2007) An autosomal genome-wide screen for celiac disease in Bedouin families. Genes Immun: E-pub.
Garner CP, Ding YC, Steele L, Book L, Leiferman K, Zone JJ, Neuhausen SL. (2006) Genome-wide linkage analysis of 160 North American families with celiac disease. Genes Immun 8: 108-114.
Neuhausen SL, Slattery ML, Garner CP, Ding YC, Hoffman M, Brothman AR. (2005) Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: strong association of IRS1 G972R variant and cancer risk. Prostate 64: 178-184.
Current Research Awards:
Genetics of the Sodium Lithium Countertransport. [NIH Grant 1 HL070137-01A1] Principal Investigator of subcontract. 9/2004 to 4/2009.
Human Telomere Genetics [NIH Grant 1 R01 AG020132] Principal Investigator of Subcontract (PI of mother grant is Dr. Aviv at University of Medical and Dentistry, NJ) 07/2005 to 6/2009.
Mapping and Cloning of Non-HLA Genes for Celiac Disease. [NIH Grant 2R01DK50678-05A2] Principal Investigator. 07/2002 to 08/2008.
Genetic Epidemiology of Breast Cancer. [NIH RO1 CA74415. BRCA1 & BRCA2] Principal Investigator. 3/1998 to 8/2008.
The IGF Signaling Pathway and Breast Cancer Risk [NIH Grant R01 CA116494] Principal Investigator. 3/2007 to 2/2011.
University of California, Irvine Cancer Center Support Grant Center grant to support UCI Cancer Center. [NIH/NCI P30 CA-62203- PI Meyskens] Co-investigator. 8/1/02-1/31/08.
Past Awards:
The IGF Pathway and Breast Cancer Risk in African Americans [CBCRP] Principal Investigator. 7/2003 to 6/2007.
Genetic Epidemiology of Prostate Cancer. [U.S. Army Grant. DAMD17-01-1-0112] 03/2003 to 02/2007.
Prophylactic Surgery in Carriers of BRCA1 and BRCA2 Mutations. [NIH Grant R43 CA83855] Principal Investigator of subcontract. 9/2002 to 8/2005.
Professional Societies
American Association of Cancer Research
American Society of Human Genetics
Other Experience
NIH Breast Cancer Family Registry 2006—Pres

California Teachers Study Steering Commitee 2006—Pres

Associate Professor
University of Utah School of Medicine 1999—2002

Post-Doctoral Researcher
NPI 1996—1998

Graduate Programs

Cancer Biology

Research Center
UCI Genetic Epidemiology Research Institute (GERI), Assoc. Director
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