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Maria Jasin, PhD
Professor, Weill Graduate School of Medical Sciences,
Member, Developmental Biology Program
Memorial Sloan Kettering Cancer Center
New York, New York
Goal: To understand the evolution of BRCA-related breast cancers and identify ways to prevent it.
Impact: Dr. Jasin’s work is focused on hormone fluctuations and normal mammary gland changes that affect the risk of breast cancer in women with BRCA mutations. She has made important discoveries in understanding how different cells repair DNA damage. This work may lead to the identification of therapeutic targets for the prevention and treatment of BRCA-driven breast cancers.
What’s next: She and her team will continue to investigate how hormone fluctuations affect DNA repair processes and the risk of developing breast cancer in BRCA-mutation carriers.
Women with inherited mutations in the BRCA genes have a significant risk of developing breast or ovarian cancer, and the only preventive strategy currently available is surgical removal of the breasts and ovaries. Dr. Jasin is conducting laboratory studies aimed at revealing how events that occur during specific stages of mammary development may alter the lifetime risk of breast cancer in women with a BRCA mutation.
Full Research Summary
Research area: To investigate how hormone fluctuations affect DNA repair processes and the subsequent risk of developing breast cancer in BRCA-mutation carriers.
Impact: Women who have inherited mutations in the genes BRCA1 and BRCA2 are at increased risk of developing breast cancer and ovarian cancer compared to the general population. When these mutations are present, the ability of cells to repair DNA damage is compromised, which ultimately heightens the risk. Currently, the only way to prevent breast cancer in this group of women is prophylactic surgery to remove the breasts and ovaries. Dr. Jasin is studying how breast development and hormone exposure during puberty and pregnancy affect the risk of breast cancer in women with BRCA mutations—efforts that could lead to prevention and treatment strategies that would reduce the need for surgeries.
Current investigation: She and her team have been conducting laboratory studies of normal mammary tissue and mammary tissue with BRCA mutations in order to determine how DNA repair processes in breast cells could be manipulated to prevent breast cancer.
What she’s learned so far: Dr. Jasin’s lab has made important progress in understanding the DNA repair abilities of certain groups of normal mammary epithelial cells. This includes stem and stem-like cells, which rely heavily on homology-directed repair (HDR)—a mechanism of DNA repair that is defective in BRCA-deficient cells.
What’s next: She and her colleagues will continue to conduct studies aimed at gaining insight into both DNA repair and the DNA damage response in specific breast epithelial cell populations and in the context of BRCA mutations. They will examine the relationship between DNA damage and hormone exposure in proliferating mammary cells and determine how BRCA mutations and genomic instability are associated. The results of her studies will increase our understanding of how developmental changes affect the DNA damage response in normal mammary tissue and mammary tissue with breast cancer predisposing mutations. This will provide novel insight into the tissue specificity of BRCA-associated breast cancers and identify potential new targets for breast cancer prevention and treatment strategies.
Maria Jasin is an investigator at Memorial Sloan Kettering Cancer Center and the Weill Cornell Graduate School of Medical Sciences, New York. She obtained her Ph.D. from the Massachusetts Institute of Technology, and was a postdoctoral researcher at the University of Zürich and Stanford University prior to joining the faculty at MSKCC.
Her research focuses on the repair of DNA breaks in chromosomes in several contexts, including during gamete development, in chromosomal translocation formation, and for gene editing, where her lab performed the first such experiment. Her understanding of DNA repair mechanisms, in particular, homologous recombination, led her laboratory to studies of the cellular roles of the breast cancer suppressors BRCA1 and BRCA2. Her studies found that both proteins are critical for homologous recombination to repair DNA breaks. Mechanistically, however, the proteins act at different steps in the pathway, such that BRCA1 and BRCA2 tumors are predicted to have both distinct and overlapping second site mutations that affect therapy resistance. Moreover, her laboratory has provided insight into the critical occurrence of replication stress arising from loss of BRCA2 and the involvement of p53. Given the high predisposition to breast cancers, a current research focus is to understand DNA repair in the breast at different developmental stages and contexts. Her research accomplishments have led to election to the National Academies of Sciences and Medicine and the American Academy of Arts and Sciences.