SCIENTIFIC REPORT 2004 - Sylvester Comprehensive Cancer Center

C A N C E R P R E V E N T I O N A N D C O N T R O L P R O G R A M
LISA L. BAUMBACH-REARDON, PH.D.
Associate Professor of Pediatrics
DESCRIPTION OF RESEARCH
Dr. Baumbach’s laboratory is involved in
breast cancer research focusing on a better
understanding of the genetic basis of breast cancer
in African-American women. The laboratory
is completing two major projects. The first is the
development of a specific BRCA1 and BRCA2
mutation/variants panel for women of African
ancestry with either breast cancer or a significant
family history of breast/ovarian cancer. Development
of such a panel will allow its incorporation
into clinical practice with clear improvement
of genetic counseling for this minority and
underserved population. Based on their preliminary
data, supplemented with a thorough review
of all published English literature, the laboratory
has identified 13 reported mutations and 13 reported
unclassified variants in BRCA1, and six
mutations and ten variants in BRCA2 in African
Americans. Some of these genetic changes are
specific to an individual; others are recurrent in
the African Americans studied. A screening panel
for such BRCA1 and BRCA2 mutations/variants
will be designed to develop an efficient assay for
eventual use in clinical practice.
The second project, which complements the
first, is a genome-wide analysis of all genetic
changes in breast cancer tissues collected from
African-American patients. These studies will use
state-of-the art technology of DNA microarray
analysis. The combined information from these
studies will provide significant new insights into
the genetic basis of African-American breast cancer,
thus providing important new information
regarding diagnosis and possible therapies.
HIGHLIGHTS/DISCOVERIES
• Identified 13 reported mutations and 13 reported
unclassified variants in BRCA1, and six
mutations and 10 variants in BRCA2 in African
Americans.
• Made significant progress in the development of
the mutation screening panel-streamlined
methodology for mutation detection.
• Filed for a patent to protect information related
to the development of the mutation screening
panel, through the University of Miami Office
of Technology Transfer.
• Conducted further detection and population
screening for African-American BRCA1 and
BRCA2 missense mutations.
BONNIE B. BLOMBERG, PH.D.
Professor of Microbiology and Immunology
DESCRIPTION OF RESEARCH
Research in Dr. Blomberg’s laboratory focuses
on two projects. One of these projects
involves basic research on the molecular regulation
of B lymphopoiesis in mice. Generation of
B lymphocytes is important in cancer patients
receiving bone marrow as well as in the normal
production of the humoral (antibody) response.
Aged humans and other mammals have a poorer
immune response to pathogens.
In collaboration with Richard L. Riley,
Ph.D., in the department of Microbiology and
Immunology, Dr. Blomberg has shown that aged
mice, those greater than or equal to about 80
percent of their full life span, have a substantial
decrease in the number of precursor B lymphocytes
as well as the amount of the precursor B-cell
receptor (preBCR) including the surrogate light
chain (SLC)g5 and VpreB. Their data indicate
that this affects the antibody V H
repertoire at the
pre-B cell level, i.e., before antigen selection.
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UM/Sylvester Comprehensive Cancer Center Scientific Report 2004