A woman in Singapore has been diagnosed with Li-Fraumeni syndrome (LFS), a rare hereditary disorder that predisposes a person to develop cancer at an early age. This is the first time that a case of LFS has surfaced in the country. Only about 400 families worldwide are known to have LFS.
Researchers from the National Cancer Centre Singapore have revealed that a person should generally have two normal copies of the powerful p53 tumor suppressor gene, but people suffering from LFS inherit one defective copy of it from a parent. The researchers have also revealed that they detected the condition in a woman who had developed early onset breast cancer.
While making a presentation at the American Association for Cancer Research Centennial Conference on Translational Cancer Medicine, the researchers said that clinicians should also consider LFS as a potential diagnosis in young women with breast cancer.
"In a selected population of young breast cancer women with a family history suggestive of LFS, genetic testing may help to identify the syndrome," said Ann S.G. Lee, a study investigator. "Since LFS greatly increases the risk of developing several types of cancer, it would be important if it could be identified early. This would help persons at risk decide on certain health surveillances and other measures that might improve their long term health," Lee added.
The researchers recruited 30 patients and their families, took detailed family histories, and tested their blood for mutations in the p53 gene and the CHEK2 gene, another tumor suppressor gene found to be mutated in some patients with LFS. They found LFS in one woman in Singapore who had been diagnosed with breast cancer at age 25. Her mother had been diagnosed with breast cancer at age 34, and died at age 35, and a sister died of a brain tumor when she was 10 years old.
The patient's non-identical twin sister, determined by DNA fingerprinting, neither has LFS nor the p53 mutation. The researchers believe that establishing a detailed family history that extends back for three generations, which is necessary to make a diagnosis of LFS, can be problematic.
"In Singapore, many families are small and many are migrants, and it can be difficult to obtain the needed history. That is why we focused our study on young onset breast cancer patients and tested these individuals for germ-line mutations in the p53 gene," Lee said.