Genetic Anomaly Discovered, Early Blood Test Could Detect Tumors

Toronto, Ontario (AHN) - A genetic anomaly found in families with the rare Li-Fraumeni syndrome, may lead to a blood test to detect tumors early.

LFS is a rare hereditary disorder in which the sufferer has greater susceptibility to cancer. It is linked to the mutation of a tumor suppressor gene, which usually helps control cell growth.

According to Dr. David Malkin of the Hospital for Sick Children in Toronto, researchers found out that those with LFS have more variation in their DNA compared to those without the condition.

The discovery could lead to a better understanding of various types of cancer in the broader population.

Those with LFI have higher chances of developing specific cancers during childhood and early adulthood. It includes soft tissue and bone cancers, brain tumors and breast cancer. Globally, there are 2,000 families known to have LFI, although the number could be larger, said Malkin.

"It would imply that people who have a mutation in this gene and are susceptible to cancer have inherently regions of their DNA which are duplicated or deleted and therefore are unstable... And that may have something to do with the mechanism by which they develop cancer," Malkin told the Toronto Star.

The study was published online Monday in the Proceedings of the National Academy of Sciences.