Expanded ‘Cancer Gene Census’ is expected to accelerate development of new therapeutics and biomarker-based personalized medicine diagnostic tests for disease; could be useful for anatomic pathologists

Oncology is one of the fastest-developing fields in precision medicine and use of DNA-based diagnostics. Surgical pathologists are helping many cancer patients benefit from the use of a companion genetic test that shows their tumors are likely to respond to a specific drug or therapy. Consistent with that work, researchers in the United Kingdom (UK) have now produced the first comprehensive summary of all genes known to be strongly associated with cancer in humans.

The expansion of the “Cancer Gene Census” is noteworthy for anatomic pathologists who should expect to see the information increase the understanding of cancer causes and accelerate the development of new therapeutics and biomarker-based molecular diagnostics.

In this latest Cancer Gene Census, researchers from the Wellcome Sanger Institute (WSI) used CRISPR gene editing systems to produce an expanded catalog of 719 cancer-driving genes in humans.

According to a review article on the project published in Nature Reviews Cancer, “The recent expansion includes functional and mechanistic descriptions of how each gene contributes to disease generation in terms of the key cancer hallmarks and the impact of mutations on gene and protein function.”


The 2018 Cancer Gene Census from the Wellcome Sanger Institute in the United Kingdom summarizes 719 genes suspected of causing cancer in humans and describes how they function across all forms of the disease. (Photo copyright: Wellcome Sanger Institute.)

The Catalogue of Somatic Mutations in Cancer (COSMIC) provided the foundation for the WSI’s research. It involved manually condensing almost 2,000 research papers to develop evidence for a gene’s role in cancer.

While the COSMIC database characterizes more than 1,500 forms of human cancer and types of mutations, the U.K.’s Cancer Gene Census goes further and “describes which genes are fundamentally involved and describes how these genes cause disease,” a Wellcome Sanger Institute news release states.

“For the first time ever, functional changes to these genes are summarized in terms of the 10 cancer hallmarks—biological processes that drive cancer,” the statement explains. “Mutations in some genes lead to errors in repairing DNA, whereas mutations in other genes can suppress the immune system or promote tumor invasion or spreading. Across the 700 genes in the Cancer Gene Census, many have two or more different ways of causing cancer.”

Zbyslaw Sondka, PhD, lead author on the WSI project, believes their study has provided scientists with much needed new insights. “Scientific literature is very compartmentalized. With the Cancer Gene Census, we’re breaking down all those compartments and putting everything together to reveal the full complexity of cancer genetics,” he noted in a WSI article.

“This is the broadest and most detailed review of human cancer genes and their functions ever created and will be continually updated and expanded to keep it at the forefront of cancer genetics research,” Sondka added.

Making Precision Medicine More Precise

An understanding of the roles played by different genes in various cancers is key to enabling researchers to develop drugs that will be effective against individual cancers.

“The combination of the Cancer Gene Census with COSMIC will enable researchers to investigate individual mutations and try to find good targets for anti-cancer drugs based on the actual processes involved,” Simon Forbes, PhD, Senior Author of the Cancer Gene Census paper and Director of COSMIC at the Wellcome Sanger Institute, stated in the WSI news release.


Simon Forbes, PhD (above), Director of COSMIC at the Wellcome Sanger Institute and Senior Author of the Cancer Gene Census paper, believes the institute’s latest Cancer Gene Census, which catalogs 719 cancer-causing genes, will “help make precision medicine even more precise” by allowing “biologists and pharmaceutical scientists to see patterns and target particular pathways with anti-cancer drugs, not solely single genes.” (Photo copyright: Wellcome Sanger Institute.)

The path to precision medicine cancer treatments was further boosted this month when Wellcome Sanger Institute researchers, in partnership with the Open Targets Platform, announced a new system to prioritize and rank 600 drug targets that show the most promise for development into cancer treatments, noted a WSI statement.

The WSI/Open Targets team published its research in the international science journal Nature.

CRISPR-Cas9 and Personalized Medicine

This latest research springboards off one of the largest CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats)-Cas9 screens of cancer genes to date. Researchers used CRISPR gene-editing systems to disrupt every gene within 30 different types of cancers and locate several thousand key genes essential for cancer’s survival. They then identified 600 genes that potentially could be used in personalized medicine treatments.

“The results bring researchers one step closer to producing the Cancer Dependency Map, a detailed rulebook of precision cancer treatments to help more patients receive effective therapies,” the Wellcome Sanger Institute statement notes.

Anatomic pathologists and clinical laboratories should note the speed at which development of useful biomarkers for diagnosing cancer is progressing. All labs will want to be prepared to capitalize on those advancements through the lab testing services they offer in their medical laboratories.

—Andrea Downing Peck

Related Information:

The COSMIC Cancer Gene Census: Describing Genetic Dysfunction Across All Human Cancers

Largest Census of Cancer Genes to Help Understand Drug Targets

New Cancer Drug Targets Accelerate Path to Precision Medicine

Prioritization of Cancer Therapeutic Targets Using CRISPR-Cas9 Screens

University Study Suggests Cervical Microbiome Could Be Used by Medical Laboratories as Biomarker in Determining Women’s Risk for Cervical Cancer

Expanding Knowledge about the Human Microbiome Will Lead to New Clinical Pathology Laboratory Tests

Effort to Map Human Microbiome Will Generate Useful New Clinical Lab Tests for Pathologists