Mutations in a crucial gene, that offers protection against cancer, can itself trigger a variety of cancers, a study has revealed.
esearchers at the Ohio State University Comprehensive Cancer Center-Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 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.
While it is not known why people with Cowden syndrome develop different cancers, or cancers that are more severe in some than in others, the cause is often attributed to the natural genetic differences that exist between individuals.
However, this animal study 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. Together, our findings demonstrate that specific inherited PTEN mutations have a strong influence in the variable predisposition to cancer of patients with Cowden syndrome," said principal investigator Gustavo Leone.
The findings suggest that testing for specific PTEN mutations might predict the kind and severity of cancer that will develop in people with the syndrome.
In addition, because PTEN is the second most commonly mutated gene in human cancer overall, the same mutations might predict severity in sporadic tumours, as well.
"Mutations in this gene also play a role in developmental disabilities and perhaps in autism, so this mouse model might be useful for studies in those conditions, as well," said co-principal investigator Michael Ostrowski.
The researchers are now investigating why patients may experience differences in cancer severity even when they have the same mutation.
The study has been published in the latest issue of the Proceedings of the National Academy of Sciences of the United States of America.