Common Genetic Mutations Found to be the Cause of Several Cancers

Common Genetic Mutations Found to be the Cause of Several Cancers

Dr. Namitha Kumar
Medically Reviewed by The Medindia Medical Review Team on October 21, 2019 at 5:41 PM
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  • New multicenter study helps understand how a single mutation in splicing factor gene SF3B1 is the cause of several cancers
  • This mutation is the cause of many common cancers including, leukemias, myelodysplastic syndromes, melanomas, breast cancers, pancreatic cancers, liver and bladder cancers
  • This key discovery has therapeutic underpinnings, which can include using CRISPR to correct the rogue mutation and reverse the cancers
A recent multicenter study at the Fred Hutchinson Cancer Research Center and Memorial Sloan Kettering Cancer Center proved how a single mutation in splicing factor gene SF3B1 is the cause of several cancers.
Common Genetic Mutations Found to be the Cause of Several Cancers

Dr. Robert Bradley, an associate member of Fred Hutch's Public Health Sciences and Basic Sciences divisions, and Dr. Omar Abdel-Wahab, an associate member of Memorial Sloan Kettering's Human Oncology and Pathogenesis Program, led the program.

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They found that this single mutation in SF3B1 is the cause of many common cancers including:
Dr. Bradley and Dr. Abdel-Wahab studied the function of SF3B1 in coding a critical protein that produces an important RNA molecule. They studied RNA sequencing data of many patients with different types of cancer to zero in on the RNA molecule. They found that the SF3B1 mutation produces an abnormal RNA molecule BRD9, which had junk DNA. This junk DNA damaged the genetic code.

BRD9 has a key role as a tumor suppressor and its mutated form led to the cause of several cancers.

Dr. Bradley said that they had long known that mutations in SF3B1 were associated with several cancers. They had now uncovered why this splicing gene mutates and what are the implications for treatment.

Dr. Abdel-Wahab indicated his excitement over slowing down a patient's cancer by modifying a molecule in their cells. He said that developing targeted therapies based on the individual's genomic profile is the key to precision medicine.

While the research is still preclinical and not yet reached human trial rounds, the researchers are confident that this discovery will enable cures for cancer patients with SF3B1 mutation with targeted therapies.

The scientist duo has been developing precise therapies using sequencing, computing, CRISPR genetic engineering and anti-sense oligonucleotide options. They hope to test these offerings with many cancer types.

The study was published in the journal Nature. Funding for the study came from multiple sources including, National Institutes of Health, the Department of Defense Bone Marrow Failure Research Program, and nonprofit organizations like the Leukemia & Lymphoma Society, Evans MDS Foundation and some others.

Reference :
  1. How a common cancer mutation actually drives cancer — and how to correct it - (

Source: Medindia

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