Grant ID RP120076
Awarded On November 02, 2011
Title Novel mechanisms leading to telomere dysfunction and cancer predisposition
Program Academic Research
Award Mechanism Individual Investigator
Institution/Organization Baylor College of Medicine
Principal Investigator/Program Director Alison A Bertuch
Cancer Sites Head and Neck, Leukemia
Contracted Amount $937,896
Lay Summary

Telomeres are protective structures at ends of our chromosomes. In dyskeratosis congenita (DC), people lack the ability to maintain their telomeres properly due to a mutation in one of several genes that guide cells in making telomere maintenance factors. As a result, people with DC have unstable chromosomes. These unstable chromosomes lead to other genetic changes that drive the development of cancer. Consequently, people with DC have a lot of cancer. For example, about half of those surviving to their mid 40’s will have or had cancer, particularly of the tongue or leukemia. Although a bone marrow transplant can prevent the development of leukemia, there are no therapies that can prevent th...

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