Scientists elucidate risk factors and environmental exposures for fatal heart and kidney cancers

The HER2 cancer mutation is responsible for about 90 percent of all currently diagnosed heart and kidney cancers, accounting for nearly 70 percent of all cancers among U. S. adults, according to the National Institutes of Health and Centers for Disease Control and Prevention. Recently, researchers at Brigham and Women’s Hospital used advanced-heat-frame image analysis to elucidate genetic risk factors and environmental exposures for instance. Their work appears in the journal Heart.

“The purpose of our study was to provide a scientific basis on which clinical decisions could be based, and that today’s clinical guidelines would be more accurate, ” explained corresponding author Guillermo Magelli, MD, Ph. D., senior research scientist at the Brigham’s Program in Imaging Radiation and Radiation Biology and the Center for Risk and Evaluation in the Department of Medicine.

The study included 96 patient specimens and 3 enriched Heart and Kaufmann malignant mutations. Positron emission tomography data was used to objectively determine blood cell counts and cardiac function.

To determine the genetic and environmental risk factors associated with clinical outcomes, scientists profiled genetic batches and validated them using MRI assay data for HER2 positive patients. In addition to histone modifications, the analysed data accurately reflect differences found in patients in reference to genetic variants. For example, whereas the genetic variants for tumor-forming genes ChEAC3, KCBLF or SKN2A suggest greater cancer risk, genetic variants do not change the type of cancer but the pattern of inheritance, including the presence of variants previously associated with poor outcomes. Individuals with genetic variants associated with cognitive impairment also had positive results, although evaluating that it was related to disease outcome was also contested.

Scientists assessed U. S. residents aged 65 years and older with documented kidney cancer and analyzed MRI response databases to estimate pathological outcomes. They also considered non-medical information on gender and socioeconomic status, education, sex, and smoking status. None of the patient samples were collected for genetic value-bearing specimens.

“Our results provide evidence that the genetic variant prevalence in patients with triple negative breast and prostate cell cancers may be underestimated due to a low prevalence of mutated ER-valence genes in examined homogeneous TRPM8 T-positive patients, ” commented senior author Li Bai and study co-author. They noted that other factors, such as inadequate treatment, could also be contributing to underestimation of disease response commonly observed in patients with different genes.

The study was led by Magelli and co-author Ezequiel Martinez, Ph. D., professor of imaging biology at the BRD’s External Clinical Services Clinical Research Center and the Brigham’s Brigham and Charles C. Simmons Comprehensive Cancer Center. Martinez is also the director of the Brigham’s Center for Risk & Evaluation in the Department of Medicine.

“Overview of genetic prediction and risk assessment tools for patients with heart and kidney cancer” was published in Nature Biotechnology.