My primary research interest is to identify genes that cause and/or increase susceptibility to common diseases. Thus, I am actively involved in numerous research projects devoted to the study of breast cancer, prostate cancer, colorectal cancer, and celiac disease. These studies are all made possible by external funding, primarily NIH grants.

In collaboration with distinguished researchers around the world, I am continuing to study women who carry BRCA1 and BRCA2 mutations in order to identify gene variants that modify their risks of developing cancer. In addition, we are studying this group of carriers in order to assess the cancer risks that their family members are subject to, and to determine if prophylactic and preventative treatments will significantly reduce their risk of developing breast and ovarian cancers. Our focus is BRCA1/2 mutation carriers who, because of their high risk of developing cancer at an early age, are the group for whom these results would first be applied. This information can be used to assist women and their physicians in individual risk assessment, as well as target women for prevention or treatment strategies.

For prostate, colorectal, and non-familial breast cancer studies, we are using case-control studies to investigate genetic and lifestyle factors that cause increased susceptibility to developing these diseases. For these studies, my objective is to elucidate pathways and genes that have not been previously explored in this context. My current studies are case-control and case-case studies investigating the associations of genetic variants (in genes likely involved in cancer) with occurrence and/or progression of the disease. In the future, I will obtain RNA from tumors in order to perform microarray analysis to identify genes that appear to be regulated together and to identify subtypes of specific cancers. I will then identify functional variants in these genes in specific pathways for investigation with relevant epidemiological and lifestyle factors for risks of developing that specific cancer subtype. At the same time, I will use the opposite approach and examine paraffin-embedded tissue for immunohistochemical staining from individuals with cancer that do and do not have specific genetic variants for a given gene(s) and pathway.

Examples of recent publications:

1. Slattery ML, Yakumo K, Hoffman M, Neuhausen SL: (2001) Variants of the VDR gene and risk of colon cancer. Cancer Causes Control, 12(4):359-364.
2. Rebbeck TR, Wang Y, Kantoff PW, Krithivas K, Neuhausen S, Godwin AK, Daly MB, Narod SA, Brunet J-S, Vesprini D, Garber JE, Lynch HT, Weber BL, Brown M: (2001) Modification of BRCA1- and BRCA2-associated breast cancer risk by AIB1 genotype and reproductive history. Cancer Res, 61:5420-5424.
3. Neuhausen SL, Feolo M, Camp NJ, Farnham J, Book L, Zone JJ: (2002) Genomewide linkage analysis for celiac disease in North American families. Am J Med Gen, 111:1-9.
4. Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, van Et Veer L, Garber JE, Evans G, Isaacs C, Daly MB, Matloff E, Olopade O, Weber BL: (2002) Reduction in cancer risk after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers. N Engl J Med, 346: 1616-1622.