H. Lee Moffitt Cancer Center & Research Institute, Inc
Senior Member, Population Sciences Division
H. Lee Moffitt Cancer Center
Professor, Department of Oncologic Sciences
University of South Florida College of Medicine
Identifying and stratifying BRCA1 and BRCA2 gene variants that confer intermediate risk of developing breast cancer.
Women with family history of breast and ovarian cancer often undergo genetic testing for mutations in the BRCA1 and BRCA2 genes, which are known to significantly increase breast cancer risk. Carriers of pathogenic BRCA1 and BRCA2 gene variants are offered prevention options that include more frequent screenings and prophylactic surgery. Carriers of benign variants or who have no variants do not have elevated BRCA-associated risk. There are, however, gene variants of uncertain clinical significance for which association with risk cannot be assessed with the information available. Carriers of these variants have no actionable information and cannot benefit from established clinical recommendations. Recently, several gene variants have been uncovered that seem to confer risks that are not as high as pathogenic variants. These variants, known as suspected intermediate risk variants, have either remained categorized as variants of uncertain significance or incorrectly classified as benign. Currently, it is unclear which gene variants belong to the intermediate risk category and no specific clinical recommendations exist for carriers.
Dr. Monteiro’s objective is to formally define a new category of intermediate risk BRCA variants and delineate the spectrum of risk in variants of breast cancer susceptibility genes. He will identify gene variants of intermediate risk that can be used as a point of comparison to integrate clinical and functional data for gene variant classification and risk assessment. Ultimately, Dr. Monteiro seeks to propose clinical guidelines that improve risk-appropriate cancer prevention for carriers of intermediate risk BRCA1 and BRCA2 gene variants.
Alvaro Monteiro, PhD is a senior member in the Population Sciences Division at the Moffitt Cancer Center and a professor in the Department of Oncologic Sciences at the University of South Florida College of Medicine. He is the Scientific Director of the Molecular Genomics Shared Facility and directs the Laboratory of Cancer Genetics & Genomics. He earned his doctorate in biochemistry at the Federal University of Rio de Janeiro, Brazil and did postdoctoral work in molecular biology at the Rockefeller University. Before moving to Moffitt, he was an assistant professor at the Weill Medical College of Cornell University in New York City. The main theme of Dr. Monteiro’s laboratory is the integration of systems biology and genetics to explore the role of genetic variation in cancer predisposition, development, and treatment. He aims to understand how rare and common genetic variation impacts on signal transduction networks and its role in disease with a focus on breast cancer. The laboratory has pioneered functional assays for BRCA1 and contributed to the development of tools for clinical annotation of rare variants in BRCA1, BRCA2, PALB2 and CHEK2 in hereditary breast and ovarian cancer syndrome. The laboratory also has an interest in common genetic variation in cancer susceptibility loci and have played an active role in the NIH/NCI GAME-ON (Genetic Associations and Mechanisms in Oncology) consortium as a member of its Functional Working group. Dr. Monteiro participates in training of molecular epidemiologists specializing in cancer since 2014 as a faculty member in the AACR Workshop on Integrative Molecular Epidemiology.
Please remember BCRF in your will planning. Learn More
Breast Cancer Research Foundation28 West 44th Street, Suite 609, New York, NY 10036
General Office: 646-497-2600 | Toll Free: firstname.lastname@example.org | BCRF is a 501 (c)(3) | EIN: 13-3727250