"It's just not black and white all the time," Vogel said.
Pathologists can have particular difficulty discerning the difference between non-cancerous hyperplasia, or an excess of cells, and ductal carcinoma in situ, a non-invasive and highly treatable form of breast cancer. At times it can be also difficult to tell the difference between ductal carcinoma in situ and invasive ductal carcinoma, a more aggressive and life threatening form of cancer.
"That's why this paper is so important," Vogel said. "What every pathologist and every patient wants is more diagnostic certainty."
Using 11 normal human breast tissue samples and 14 invasive cancer tissue samples, the researchers identified eight genes that were frequently repositioned in cancer specimens. They found that the repositioning of the gene HES5 indicated breast cancer in nearly all samples.
Previous research had implicated HES5 with cancer, according to background information in the study. In the new study, the researchers also found that changes in the location of several other combinations of two or three genes also indicated cancer with high accuracy.
"If validated in a larger number of samples, we envision that this approach may be a useful first molecular indicator of cancer after an abnormal mammogram," Misteli said. "Our method of cancer diagnosis is not limited to breast cancer and may be applied to any cancer type in which repositioned genes can be identified."
The next step, he said, is to replicate the findings using more tissue samples. "We think this method will be used in combination with conventional methods [such as mammogram and biopsy] but will make detection a lot stronger."
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