Funded Pilot Studies in 2008

Dr. Vanessa Sheppard, "Understanding Barriers and Motivators to African American Women's Participation in Genetic Counseling and Testing"

Although there has been an explosion in knowledge and genetic information since the discovery of BRCA1/2 and the mapping of the human genome, African American women (AAW) have not readily adopted genetic counseling and testing (GC/T).  Most strategies to improve accrual of AAW into breast cancer genomic research have not been very successful and data on determinants of participation are equivocal.  For instance, one study found AAW were interested in this issue, but other research suggests low awareness and interest in BRCA1/2 genetic counseling and/or testing.  Studies that have employed "culturally tailored" approaches have surprisingly resulted in low numbers of AAW participating in testing and. among those tested, few actually chose to receive test results.  Before continuing investments in recruitment strategies or tailored interventions, it appears necessary to understand the social and personal context of perceptions of GC/t among at-risk AAW.  Thus, we propose a pilot study with two phases:  1) Use of qualitative methods to identify key social and cultural norms to assess barriers and facilitators to BRCA1/2 genetic counseling and testing among moderate to high-risk AAW, and 2) Assessment of the validity of survey measures and identification of potential messages that may be used to help inform AAW about the benefits of genetic counseling/testing. 

Dr. Bassem Haddad, "Role of Interferon Regulator Factor-1 (IRF-1) Loss in Familial Breast Tumors"

Our multidisciplinary team will address an original hypothesis in which we hypothesize that interferon regulatory factor-1 (IRF-1) is either a bona fide breast cancer tumor suppressor gene (TSG) (like BRCA1), and/or it is a modifier (rather than primary driver) of carcinogenesis (e.g., acting as a contributor to polygenic cancer progression), in collaboration with BRCA1. We also hypothesize that loss of IRF-1 is associated with disease progression in sporadic and familial breast cancers. 

The current proposal aims to address one main aspect of our overall hypothesis, namely to evaluate the role of IRF-1 loss in familial breast tumors. The rationale for our hypothesis is supported by data from our group as well as from other published studies. 

To date, no studies have addressed the role of IRF-1 in familial tumors and the results we will obtain will provide strong preliminary data for a planned NIH R01 application. 

To accomplish our objective, we will pursue the following specific aims:

Aim 1: To assess the prevalence of IRF-1 loss (homo- or hemizygous deletions) in familial breast cancers (BRCA1/2 mutation carriers and non-carriers), using fluorescence in situ hybridization (FISH) analysis. 
Aim 2: To study IRF-1 protein expression in familial breast cancers (BRCA1/2mutation carriers and non-carriers) using immunohistochemistry (IHC) studies. We will evaluate the same tumor set studied in Aim 1. 
Aim 3: To study the association of IRF-1 homo-or hemizygous deletion with IRF-1 protein expression and with clinical outcome measures.