A team develops a program that highlights carcinogenic mutations

By conjuring the spell "Lumos!" The magicians of the mythical world of Harry Potter could illuminate the end of their wands and illuminate their environment. The same goes for LumosVar, a computer program developed by the Translational Genomics Research Institute (TGen), which "lights up" carcinogenic genetic variables, or mutations, that cause cancer, explaining how doctors could best treat their patients.

A study published today in the scientific journal Frontiers in Oncology Describes how researchers at TGen, a subsidiary of City of Hope, have developed LumosVar to create a tool that can accurately identify carcinogenic mutations in patient tumor samples.

In the case of archived patient samples for which treatment outcomes are known, they represent a treasure trove of information that could speed up the research of researchers and physicians to predict future patients' responses to particular treatments .

"There are many open questions in precision oncology that can only be answered by collecting large amounts of patient genomic data related to treatment response and clinical outcomes," said Dr. Rebecca Halperin, a professor with TGen Research Assistant, Quantitative Medicine and Systems Biology.

"The approach we describe in this study should enable researchers to make more efficient use of archival samples." Calling or accurately identifying somatic variants – those DNA modifications specific to Patient Cancer – is the first step in any badysis, "said Dr. Halperin. the main author of the study.

However, archived tumor samples are often not accompanied by normal genetic information – or germline – of the patient, which makes it difficult to distinguish between normal DNA variants of the patient and their mutated DNA modifications and cancerous.

LumosVar is a tool accurate enough to detect not only the cancerous DNA of a patient sample, but also to differentiate adjacent normal DNA that can surround the tumor in the sample. Comparison of the patient's normal DNA from an alleged cancer mutation is essential to eliminate non-cancerous benign variants of the sample – the "false positives" – and to ensure the highest possible accuracy from the badysis of the tissue sample.

Physicians must use this information in precision medicine with great precision to determine the treatment that each patient should receive.

"DNA sequencing of tissues adjacent to the tumor could help identify somatic or carcinogenic mutations, when no other source of normal tissue is available," said Dr. Sara Byron , badistant research professor at TGen's Integrated Cancer Genomics Division, and also the lead author of the study.

This study titled "Leveraging the Spatial Variation in Tumor Purity to Better Call Archival Tumor Specimens by an Improved Somatic Variant" was funded by the Ben and Catherine Ivy Foundation, GE Global Research, and the Research Initiative. Chancellor of the Texas A & M system.

Provided by
Translational Genomics Research Institute