July 28, 2004 – After studying thousands of patients for nearly a decade, a team of cancer researchers – including at the Barbara Ann Karmanos Cancer Institute – has announced the discovery of a genetic “susceptibility region” that probably contains a key gene responsible for lung cancer.
 
The researchers described the discovery of the lung cancer-linked area on Chromosome 6 of the human genome as a major step on the road to mapping the genetic triggers for the most fatal form of cancer, which kills more than 160,000 Americans each year. The discovery was the result of a five-year study designed by a national, multi-institution consortium of scientists funded by the National Institutes of Health. 

The breakthrough, formally unveiled in the August 22 issue of American Journal of Human Genetics, could eventually pave the way for screening and prevention tools aimed at protecting those at high risk for the disease.

“This is the first and only linkage study conducted regarding lung cancer, and the discovery of the susceptibility area is a critical advance in understanding this disease,” says Karmanos Institute President & CEO John C. Ruckdeschel, M.D.

“Lung cancer is the leading cause of cancer death in the United States, and the survival rate after five years is only fifteen percent. I’m proud that we – and people living here in metro Detroit – had such significant role in this national research project.”

Lung cancer expert and Institute Associate Center Director Ann Schwartz, Ph.D., was a member of the national consortium.

Conducted by the Genetic Epidemiology of Lung Cancer Consortium (GELCC), the massive research effort included investigators from the University of Cincinnati, the Mayo Clinic, the University of Colorado, Washington University in St. Louis, the University of Texas and the National Human Genome Research Institute (NHGRI), along with several other institutions.

To establish linkages between lung cancer occurrence in families and their genetic source, the Consortium screened hundreds of Detroit-area families to find those with several members with lung cancer for in-depth study. Several family members who participated in the study describe themselves as “encouraged” and “elated” by the results.  

“I’m hoping to see a breakthrough against lung cancer in my lifetime, and this discovery brings us a step closer,” said 59-year-old John Oder of South Lyon, who lost both his parents and also two sisters to lung cancer. “I’m elated, because it seems like we’re getting closer to a cure all the time.”

Carl Schrader of Woodhaven, a 61-year-old retiree who sacrificed part of one lung to the disease in 1996, also reacted strongly. “That’s great news!” says Schrader. “Both of my parents died of lung cancer, and this kind of progress means a lot. I just wish they’d [researchers] go more quickly!”

Donna Mann, another Woodhaven resident who participated in the study, said she signed on after her father and two of his siblings died of lung cancer – and because she wants to protect her own two children from the threat of the disease in the years ahead. “I’m really happy to hear this news,” she says, “because it could mean a brighter future for my kids and their kids.”      

To pinpoint a region of “susceptibility” to lung cancer in the human genetic code, researchers across the U.S. teamed up in 1999 to begin studying “linkages” between the occurrence of lung, throat and laryngeal cancer in families and genetic “markers” (protein sequences in cellular DNA) that are known to vary along the human genome.
 
“The Consortium has spent many years identifying families with multiple generations of lung cancer and then collecting the specimens necessary to do this kind of genetic linkage study,” said Ann G. Schwartz, Ph.D., MPH, director of the Karmanos Population Studies and Prevention Program, an investigator in the project since its inception.

“If you equate this recent finding with breast cancer research, you can see its significance clearly. We’ve known for years that we have genes for breast cancer [BRCA1 and BRCA 2], but before we managed to locate those genes, we had to start with chromosomal ‘susceptibility regions’ that appeared to be linked to the disease.” 
 
“That’s where we are now, with this new finding on lung cancer. We don’t have the gene yet – but we do have a region on Chromosome 6 that is inherited along with lung cancer in these families. The next step will be to narrow down that region and actually identify a gene. 

“Doing that won’t be easy, but I think this is a very hopeful, very exciting step forward for all of us who are working day in and day out on lung cancer.” 
 
Another important finding from the linkage study, said Dr. Schwartz, was the discovery that even a small amount of cigarette-smoking increased lung cancer risk among carriers of the genetic susceptibility.  (The area is located within a 200-million base pair region between segments 23 and 25 on the long arm of the chromosome.)

“I think the takeaway message on that aspect is that the research once again reveals the high risk of smoking,” she said. “For those who were carriers of this genetic susceptibility, we found that even a small amount of smoking was often associated with the development of lung cancer.”

Dr. Schwartz said the next step in the project will be to attempt to pinpoint a specific gene responsible for lung cancer. “The discovery of genes for other types of cancer has led to better understanding of those diseases,” said the Karmanos researcher and Professor of Internal Medicine at Wayne State University.

“Hopefully, such improved understanding can then lead to better forms of treatment and prevention.”

To learn more, including how you can help, please see Hereditary Lung Cancer Genetic Study.

Based in midtown Detroit, the Barbara Ann Karmanos Cancer Institute is committed to a future free of cancer. The Meyer L. Prentis Comprehensive Cancer Center of Metropolitan Detroit, operated by the Institute, is one of 38 National Cancer Institute-designated comprehensive cancer centers in the United States. Caring for more than 6,000 new patients annually on a budget of $200 million, conducting more than 400 cancer-specific scientific investigation programs and clinical trials, the Institute is among the nation’s best cancer centers. The Institute strives to prevent, detect and eradicate cancer through the commitment of 1,200 staff including 300 faculty members supported by hundreds of volunteers and thousands of financial donors. John C. Ruckdeschel, M.D. is the Institute’s president and CEO.

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