COLUMBUS, Ohio An important gene that normally protects the body against cancer can itself cause a variety of cancers depending on the specific mutation that damages it, according to a new study by investigators at the Ohio State University Comprehensive Cancer Center-Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC-James).
The study examined mutations in a gene called PTEN. People who inherit a mutated copy of this gene have Cowden syndrome, a condition that carries a high risk of cancer in a number of organs, including the breast, thyroid and ovary. In addition, PTEN is frequently mutated in normal body cells leading to prostate, lung and pancreatic cancers.
Why people with Cowden syndrome develop different cancers, or cancers that are more severe in some than in others, is unknown, though the cause is often attributed to the natural genetic differences that exist between individuals.
This animal study, however, linked specific mutations in the gene to distinct kinds of cancer in organs targeted by the syndrome.
"We showed that the mutations themselves play a critical role in driving the cancers that occur in certain organs in people with Cowden syndrome," says principal investigator Gustavo Leone, associate professor of molecular virology, immunology and medical genetics at the OSUCCC-James.
"Together, our findings demonstrate that specific inherited PTEN mutations have a strong influence in the variable predisposition to cancer of patients with Cowden syndrome."
The findings, published in the March 16 issue of the Proceedings of the National Academy of Sciences of the United States of America, suggest that testing for specific PTEN mutations might predict the kind and severity of cancer that will develop in people with the syndrome.
Furthermore, because PTEN is the second most commonly mutated gene in human cancer overall, the same mutations might predict severity in sporadic tumors, as w
|Contact: Darrell E. Ward|
Ohio State University Medical Center