Mark Addleman

05 September 2022

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An artificial-intelligence algorithm to identify a group of “point mutations” that cause cancer in TP53 – a gene involved in about half of all cancerous tumours – has been developed by a group of researchers at Hadassah-University Hospital in Jerusalem.

Their discovery has aroused much interest among doctors and scientists around the world.


The team, led by Dr. Shai Rosenberg, developed a set of rules to be followed in problem-solving operations that will make it possible for doctors to provide personalised treatment for mutation carriers. A point mutation occurs in a genome when a single base pair is added, deleted or changed. While most point mutations are benign, they can also have various functional consequences, including changes in gene expression or alterations in encoded proteins.

How does cancer develop?


When certain changes occur in human cells, they are likely to become cancer cells. Each of us carries a gene called TP53, whose function is to protect the normal cells of the body by correcting genetic changes,” Rosenberg explains. “With too many changes, the gene causes a planned ‘suicide’ of the cell, preventing the cell from becoming cancerous. A genetic change in the TP53 gene damages the body’s defense mechanism and causes cancer, and appears in half of all tumours. It is considered the most important gene in cancer biology.


‘’Today, we know that carriers of a mutation in the TP53 gene are at increased risk of developing cancer at an early age,” he said. “In the TP53 gene, there are a possible 2,314 different point mutations, some of which cause impairment of gene function and cancer, and some of which do not affect the gene at all and therefore have no medical significance…Clinicians around the world have information about fewer than 10% of the possible mutations of the gene, so carriers of these mutations are in grave uncertainty. ‘’

The significant breakthrough in cancer research could undoubtedly serve as a platform for the development of personalised treatment for carriers of such mutations and successfully fight the cancer from which they suffer, the team said.


‘’After much work with the best scientists and doctors at Hadassah, this method was developed to identify in the gene a large group of mutations that cause cancer and a large group of neutral mutations that do not cause cancer.” says Dr. Shai Rosenberg, a specialist in neurology and neuro-oncology and director of the Laboratory for Computational Biology of Cancer at the Sharett Institute of Oncology at Hadassah Hospital Ein Kerem.


The research group included Gil Ben-Cohen and other students from the Faculties of Medicine and Computer Science from the Sagol Programme for Computational Medicine at the Hebrew University of Jerusalem. Together with Prof. Thierry Soussi of Sorbonne University in France, who is a world-renowned researcher in the study of the TP53 gene, they developed the algorithm at Hadassah.


After the discovery, the team used machine-learning methods to train an artificial-intelligence algorithm that learns from these mutations and creates a predictive model applied to all 2,314 possible mutations. This model classifies the mutations as cancer-causing or neutral. The model they created has a high accuracy of 96.5%, allowing for testing on patients and eventual treatment.


The initial and vital development was published in the prestigious journal Briefings in Bioinformatics under the title “TP53_PROF: a machine-learning model to predict impact of missense mutations in TP53.” The article received the second-highest number of views in the journal’s history, and its influence is reverberating around the world.

“This is excellent news for the world and cancer research,” Rosenberg said. “There is still no approved drug for this gene as the drugs are in clinical trials. Once we can identify the mutations that damage the gene and end up in cancer, we will be able to effectively prescribe such drugs to the right people…The more we know about the basis of the disease, the better we can adapt the treatment to the patient. We are proud to be part of such a significant breakthrough.”

Editors notes:

Excerpt from an article By JUDY SIEGEL-ITZKOVICH, Published in the Jerusalem Post

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