COLUMBUS, Ohio -- New research has found the gene responsible for a rare inherited disorder that can lead to cancer in many different organs. Unexpectedly, the work might also have uncovered a new category of tumor suppressor genes.
The disorder is Peutz-Jeghers syndrome (PJS). People who are born with it typically develop precancerous polyps in the intestines in their teen years or later, and have freckle-like spots on the lips, around the mouth, and on the fingers.
These individuals are also at a higher risk for a variety of cancers, including those of the intestine, breast, pancreas, testis, and ovary, said Albert de la Chapelle, director of the Human Cancer Genetics Program at Ohio State University's Comprehensive Cancer Center and a co-author of the study.
The research, published this month in the journal Nature, will likely lead to a test that can be used to unequivocally diagnosis individuals with PJS and detect family members who carry the gene.
In addition, it may lead to a better understanding of how some cancers happen. "The more difficult, but in many ways more interesting, part of this story relates to how changes in this gene lead to cancer," said de la Chapelle.
"This is the way things often go when you're looking for genes. You begin with a condition, and you have no idea what sort of a gene causes it. So you map the gene's location on a chromosome and clone it, and then you find out what it does. Quite often, the function of the gene is very surprising."
In this study, de la Chapelle was a member of a team of researchers who studied 12 individuals with PJS. By examining cells from polyps removed from a single patient, the researchers were able to map the location of the gene to one tip of chromosome 19 (more specifically, to the tip of the short arm of chromosome 19).
With the gene identified, further study revealed a number of mutations that disabled it.