Dr. Lydia Usha, director of the Rush Inherited Susceptibility to Cancer (RISC) program at Rush, is currently investigating genetic causes of cancer in patients who tested negative for the BRCA1 and BRCA2 genetic mutations but still developed breast or ovarian cancer and have a known mutation in one of these genes in the family.
The results may help explain why patients who test negative for a genetic predisposition to cancer may still develop cancer. Usha is examining the idea that certain people have the familial BRCA mutation in some tissues, but not in their blood. She hypothesizes that these patients have had BRCA-positive chimeric cells in their body since birth, making these cells more susceptible to developing cancer. Usha and her team are recruiting patients and testing their cancer tissue for the familial mutation.
“This is important because we know that some drugs are more effective in treating patients who have breast and ovarian cancers with these specific mutations,” Usha said.
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