Gene link to lung cancer

Details of the international research involving Boston University and St. James’s Hospital in Dublin are published in this month’s professional journal Nature Medicine.
The researchers state that lung cancer is the leading cause of death from cancer in the world. “The high mortality rate (80-85 percent within five years) results, in part, from a lack of effective tools to diagnose the disease at an early stage,” they write in their paper in the leading journal.
The team has identified “biomarkers” which can be taken from smokers suspected of having the disease. These indicators are found from examining gene behavior in patient test samples. According to the authors, the research so far has shown accuracy of between 83 and 95 percent in identifying lung-cancer at an early stage.
The Irish end of the research was headed by St. James’s consultant respiratory physician Dr. Joseph Keane. He had previously spent time at the Boston University Medical Center and became aware of the work of Dr. Jerome Brody and Dr. Avrum Spira. On his return to Dublin, Keane became involved in the search for a biomarker to help early identification of lung cancer.
The disease in the U.S. claims over 160,000 lives each year with smoking responsible in almost 90 percent of cases. Direct medical costs are estimated at over $5bn apart from the other costs associated with the deaths. Around 1,500 die in Ireland annually from the disease.
He said that the rate of cancer in young women in particular in Ireland could be classified as an “epidemic” as they showed much higher rates of contracting the disease than they should, and are getting lung cancer at the same rate as men, who should have a much higher rate. “We are seeing people in their 30s, 40s and 50s, which is very young for lung cancer,” said Keane.
The tests used samples from Dublin and employed the latest DNA technology. This uses DNA “chips,” which measure the behavior of genes in cells, and can tell if a gene is switched “on” or “off.” Researchers found that the activity of eighty different genes formed an accurate biomarker to indicate the presence of cancer in lung tissue. When cancer is present, around forty of the genes are switched off and the others on if there is a risk of cancer.
“We figured out when you smoke you affect all the tubes in your lung. We decided if we looked at the cells not just in the cancer but elsewhere in the lung and see what the genes do, we could develop a test which could assess whether you had a chance of developing cancer,” Keane said. The new test, with accuracy of up to 95 percent, surpasses previous tests with accuracies of only 50 percent.
Those behind the research now want to carry out tests over a much wider sample of people to assess if the biomarker is also a good indicator of people actually getting the disease in the future, which Keane said would be a huge advance in medical science in combating lung disease.
“We haven’t shown that if you have these gene changes you will progress to lung cancer, but if we do show that, then we have a remarkable tool for the very early diagnosis of lung cancer,” Keane said. “This is a test which will be performed to supplement other tests — and will deliver an answer more quickly. That could be the world in terms of lung cancer,” he said, adding that such early diagnosis is seen as essential if patients are to have a chance of survival with only 50 percent of people having curable lung cancer.
Paying tribute to his team of researchers, which included nurses and medical students, Dr Keane said: “When you see this number of patients, there’s a moral obligation to get involved with research and this is a very exciting day when we can announce a breakthrough.”
“Ninety percent of lung cancer is related to smoking. We are not in the game of blaming our patients but perhaps we could blame the cigarette companies who show very little regard for the health of their customers,” Keane added.
Keane said that the new test could be part of screening processes for the disease within four or five years.
Keane, who is also on Trinity College Dublin’s Institute of Molecular Medicine, was the first researcher to receive assistance from the Irish Health Research Board’s clinician scientist program.
The Irish Government is seeking to boost scientific research to help Ireland become a hub for international study. The success of the current efforts involving Keane will be welcomed as an example of what can be achieved, and also as a tool to fight lung cancer. The Irish Government has took a world-wide lead combating smoking in 2004 by introducing a smoking ban in all workplaces which, despite predictions, has been a success and is observed with minimal enforcement.