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News Article

Genome-Based Research Reveals Possible Cancer Causes

By Miriam Bello | Mon, 04/25/2022 - 16:18

A recent study of thousands of tumors has revealed the possibility to detect mutational signatures in the DNA of cancers, enabling physicians to determine whether a patient has had past exposure to environmental causes of cancer such as smoking or UV light.

The paper’s authors linked the patterns of mutations to footprints on a sandy beach. “The footprints may look random, but they are not, they are occurring for a very particular reason,” said Serena Nik-Zainal, Professor, Cambridge University Hospitals. “You would be able to distinguish a human from an animal, a dog from a bird, even an adult from a child and whether they were walking or running.”

These signatures would allow doctors to look at each patient’s tumor and match it to specific treatments and medications. However, these patterns can be detected only through an analysis of the vast amounts of data unearthed by whole genome sequencing.

The study is the largest of its kind as the team analyzed over 12,000 cancer genomes collected by the UK National Health Service as part of the Genomics England 100,000 Genomes Project. The work, which included samples from 19 tumor types, yielded dozens of previously unknown mutational footprints, some of which could be traced back to defects in specific cellular methods for repairing DNA.

Genomics is making it possible to predict, diagnose and treat diseases more precisely than ever, so it is necessary to continue expanding this practice across the world. However, the complexity of genomics studies makes them inaccessible to many professionals worldwide, explained UK Genome experts at Mexico Health Summit 2022.

Efforts to decentralize these technologies and increase their accessibility are exemplified by the Oxford Nanopore Diagnostics, a new subsidiary of Oxford Nanopore Technologies established to facilitate the development of a new generation of DNA/RNA sequencing technology for diagnostic applications through collaborations with clinical and industry partners.

In Mexico, genomic medicine research is led by the National Institute of Genomic Medicine (INMEGEN). Created in 2004 in response to a revolution in biological sciences and in experimental biology, INMEGEN is the eleventh National Institute of Health. INMEGEN aims to incorporate much of the biomedical research and molecular oriented research into the Mexican healthcare sector.

Miriam Bello Miriam Bello Senior Journalist and Industry Analyst