Targeted treatment can be achieved through research on the genetics behind cancer


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Scientists have analysed the entire genetic blueprints of over 18,000 cancer samples and discovered new patterns of mutations that could help doctors offer better and more targeted treatment.

The study published in Science on Thursday is not the first to do such comprehensive “whole genome” analyses of cancer samples. However, no one has done this before.

“This team is the largest in the world. It’s amazing,” Serena NickZainel, a member of the team from Cambridge University, said.

A little over 12200 surgical specimens were taken from patients from the UK National Health Service. This was part of a study to examine whole genomes for people with rare and common diseases. Rest of the specimens were taken from existing cancer arrays.

Scientists have been able analyse such large numbers due to the same technological advances in genetic sequence technology that scientists recently used to decipher the entire human genome. These machines are more accurate.

Andrew Potriel, a Houston-based genomics specialist who wasn’t involved in the study, said that “we can really begin to discover the basic elements of the erosive forces which make a type cancer.”

Cancer is a disease affecting the genome. It refers to a complete set or instructions for activating cell. In 2020, the number of new cancers was estimated to be around 19 million.

The study involved 19 types of cancer: breast, colon and prostate, brain, and other. The researchers identified 58 new clues about the factors that lead to the development and progression of the disease called “mutation signatures”. Nik Zainal reported that the researchers also confirmed 51 additional mutation patterns not previously reported.

Some form because of problems in the cells of a person; others are formed by environmental exposures such as UV radiation, tobacco smoke, or chemicals.

Nick-Zeinel stated that knowing more about them helps us to understand the cancers of each individual. This can aid in treatment.

In the current trend of personalized medicine (or treatment that is based on a patient’s specific disease and genes), genetic sequencing has been integrated in cancer treatment. When doctors look at individual cancers, they now have more information.

Researchers have created a computerized algorithm to help doctors use this information. It will allow them both to look for rare and common mutation patterns. Nick-Zainal explained that a doctor might recommend a specific course of action based on a particular pattern.

Potriel stated that the data could help doctors understand what happens when a patient develops a certain mutation pattern in cancer. This will allow them to intervene earlier and possibly stop the disease from progressing.


Howard Hughes Medical Institute’s Department of Science Education provides support to the Associated Press’s Department of Health and Science. All content is owned by the Associated Press.

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