After finding hundreds of mutations in genes that raise the risk of cancer, scientists may be closer to developing new therapies for the deadly disease.
Experts have long recognized that BAP1 sometimes referred to as “the tumor protection gene,” malfunctions and promotes cancer growth.
However, up until this point, they had no idea what kinds of changes to anticipate.
According to the researchers, this finding might lead to the creation of novel medications and speed up the delivery of tailored therapies to patients.
This study examined 18,108 variants in the BAP1 gene identified by researchers from the Wellcome Sanger Institute, the University of Cambridge, and the Institute of Cancer Research in London.
They intentionally changed the genetic code of human cells produced in a petri dish using a technique called “saturation genome editing.” They found 5,665 of these modifications to be detrimental.
Carriers of these dangerous BAP1 mutations have a cancer risk that is over 10% higher than the whole population.
The researchers also found that those with detrimental BAP1 mutations had higher blood levels of IGF-1, a hormone associated with cancer growth and brain development. They published their findings in the journal Nature Genetics.
They added that these increased levels were present even in cancer-free people, which suggests that IGF-1 may be a therapeutic target for the prevention or slowing of some malignancies.
The researchers also noted that this finding might lead to the creation of novel medications that block these negative effects, which could halt or at least slow the advancement of some tumors.
Early detection of these mutations through genetic screening can also improve treatment efficacy and direct prevention actions.
A potent tumor suppressor, the BAP1 protein safeguards the body from malignancies in the eye, lung lining, brain, skin, and kidney.
The chance of getting these tumors can rise by as much as 50% in cases where there are inherited mutations that alter the protein.
Studies have shown that tumors linked to BAP1 are more likely to be aggressive and to manifest at an earlier age.
Many studies have shown that the overall survival rate for individuals with a BAP1 mutation is seven times longer than that of patients without a genetic susceptibility.
