URI_Research_Magazine_Momentum_Winter_2015_Melissa-McCarthy

as hereditary breast and ovarian cancer. In fact, it was the diagnostic test for FA that first suggested the link between these diseases in 2002. To test for FA, a diagnostic laboratory will expose a sample of the patient’s blood to a DNA damaging agent and specifically look for radial chromosome formations—a peculiar branching pattern formed by multiple chromosomes attempting to fix each other. These radial chromosome formations indicate an unsuccessful attempt at DNA repair. When cell lines from individuals with hereditary breast or ovarian cancer caused by mutation of the BReast CAncer gene 1 - BRCA1 or BReast CAncer gene 2 - BRCA2 genes underwent this same FA test, similar, high levels of radial chromosome formations were observed. This surprising discovery indicated that the genes and proteins underlying these seemingly distinct diseases might function together. Further studies have verified this relationship. In other words, if we can figure out the molecular mechanisms by which the FA proteins operate, we may be able to gain insight into the underlying molecular processes of more common diseases. Another disease link with FA involves Phosphatase and Tensin homolog ( PTEN ), the second most widely mutated gene in cancer. Among cases of glioblastoma (brain cancer), endometrial cancer, and prostate cancer, close to 50 percent of patients have mutated PTEN . According to Howlett, this suggests PTEN has a massive influence on cancer in general, making the interactions of the FA and PTEN proteins that much more important.

Niall Howlett, associate professor of cell and molecular biology

: : F A N C I

“If we can figure out how the FA and PTEN proteins interact and function together, not only will we be able to help FA patients but we’ve got this huge cohort of cancer patients that may also end up benefiting from this research,” explains Howlett.

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