New software determines aggressiveness of breast cancer

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Newly developed software enables genetic mutation analysis of breast cancer tumors, allowing for greater accuracy in determining the tumors likely to metastasize. This program examines splicing mutations, typically not reviewed by current techniques.

By utilizing this new software, coupled with sample genetic data taken from The Cancer Genome Atlas, the research team was able to identify mutations located in the Neural Cell Adhesion Module (NCAM) and related genes as being present in greater numbers in the lymph nodes.

According to lead investigator, Stephanie Dorman, A PhD student at Western University's Schulich School of Medicine & Dentistry, the new software was able to identify over 5,000 splicing mutations in 445 tumors, compared with previous studies that only identified 429 mutations.

Dorman stated that biological pathway mutations may be in part to blame for tumor metastasis. Better identification of these characteristics in tumor biopsies will help predict which women have a higher risk of tumors that will spread. The investigators also hope that the software may help identify patients with tumors unlikely to metastasize; these patients routinely receive chemotherapy, but now properly identified they may be able to avoid or minimize chemotherapy and its related side effects.

Cultured circulating tumor cells reveal genetic profile of breast cancer cells
Newly developed software enables genetic mutation analysis of breast cancer tumors.

Researchers at Western University are using cutting-edge genetic mutation-analysis software developed in their lab to interpret mutations in tumour genome that may provide insight into determining which breast cancer tumours are more likely spread to other parts of the body and which ones won't.

Their findings are published in the journal, Nature Scientific Reports. "We are using a unique software program in our lab that looks at a type of mutation called a splicing mutation that is typically overlooked using current methods," said lead author on the study, Stephanie Dorman, a PhD student in the department of biochemistry at Western University's Schulich School of Medicine & Dentistry. She said that where previous genetic studies of 445 tumours detected 429 of these splicing mutations, the Western-developed analysis software was able to find more than 5000.

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