While the connections between TP53 mutations and cancer have been well studied, an estimated 200 missense variants remain unclassified. This is because the impact these mutations have on p53 function and cancer risk is largely unknown.
StageBio senior pathologist Dr. David Garlick co-authored a study that details a common gene expression signature present in a subset of hypomorphic TP53 variants. In some cases, these germline variants have been shown to encode lesser-functioning, or hypomorphic, p53 protein, and these alleles are associated with increased cancer risk in humans and mouse models. As noted in the study titled “Common activities and predictive gene signature identified for genetic hypomorphs of TP53,” the researchers observe that this gene expression signature is present across multiple germline hypomorphic TP53 variants. This common signature enabled the researchers to successfully distinguish between a wild-type p53 variant and a benign variant from lesser-functioning hypomorphic p53 variants.
The study’s findings will allow cancer researchers to better understand the role of p53 hypomorphs in disease risk with the potential to allow them to better inform affected individuals of their associated cancer risk and therapeutic outcomes.
You can access “Common activities and predictive gene signature identified for genetic hypomorphs of TP53” to review its findings and data here.
StageBio is a leading provider of GLP-compliant necropsy, histology, pathology, and specimen archiving and biorepository services for the biopharmaceutical, medical device, academic, and contract research industries. The company operates four GLP laboratories as well as three GLP specimen archiving facilities in the U.S., along with one GLP laboratory in Europe. StageBio will continue to make investments in facility and technology infrastructure to meet the growing demand for high-quality histopathology services globally. StageBio has a team of 30+ board-certified veterinary pathologists and more than 100 laboratory technicians on staff supporting our unified commitment to quality, scientific integrity, and client satisfaction. Learn more at stagebio.com.