New software uncovering the link between ancestry and cancer

New research from Cold Spring Harbor Laboratory (CSHL) suggests that tracing the ancestry of cancer could be key to developing better treatments and early detection methods.

CSHL Research Professor Alexander Krasnitz and Postdoctoral Fellow Pascal Belleau have developed software that accurately infers the ancestry of cancerous tumours from DNA and RNA samples. By doing so, they hope to help clinicians develop personalized treatments for cancer patients.

The team trained their software using hybrid DNA profiles created from cancerous and unrelated cancer-free genomes of a known background. They then tested the software’s performance against pancreatic, ovarian, breast, and blood cancer specimens from patients with known ancestry. The software was able to match the hybrid profiles to continental populations with over 95% accuracy.

Krasnitz and Belleau are now working to test the software on samples of unknown ancestry in order to reveal ancestral mixtures and achieve more regional specificity. This could help researchers identify more localized ancestry groups that may be susceptible to certain types of cancer or other aggressive diseases, allowing them to target specific parts of the genome for treatment.

“If we can identify more localized ancestries that are susceptible to different cancers or other aggressive diseases, it could help us pinpoint the specific part of the genome responsible and target it for treatment,” said Belleau.

The researchers are also collaborating with Northwell Health and SUNY Downstate Medical Center on a study exploring how colorectal cancer mutates genes differently in different races or ethnicities. They hope to refine their software further, to the point where it can infer the ancestry of individual sequences within a genome.

“Why do people of different races and ethnicities get sick at different rates with different types of cancer?” Krasnitz said. “They have different habits, living conditions, exposures—all kinds of social and environmental factors. But there may be a genetic component as well.” By understanding this genetic component, researchers hope to improve cancer diagnosis and treatment for people of all ancestry groups.

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