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.
that this single mutation in SF3B1 is the cause of many common cancers
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
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.
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
research is still preclinical and not yet reached human trial rounds, the
researchers are confident that this discovery will enable cures for cancer
with SF3B1 mutation with targeted therapies.
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.
- How a common cancer mutation actually drives cancer — and how to correct it - (https://www.fredhutch.org/en/news/center-news/2019/10/sf3b1-cancer-mutation.html)