Location of potential familial lung cancer gene discovered

BETHESDA, Md., Mon., July 26, 2004 -- Researchers have discovered a possible inherited component for lung cancer, a disease normally associated with external causes, such as cigarette smoking. An interdisciplinary consortium consisting of 12 research institutions and universities, including the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), both part of the National Institutes of Health (NIH), identified a major lung cancer susceptibility region on a segment of chromosome 6. The findings appear in a just-posted-online edition of American Journal of Human Genetics* and will appear in print in the September 2004 issue.

The Genetic Epidemiology of Lung Cancer Consortium (GELCC) ** examined 52 families who had at least three first-degree family members affected by lung, throat, or laryngeal cancer. Of these 52 families, 36 had affected members in at least two generations. Using 392 known genetic markers, which are DNA sequences that are known to be common sites of genetic variation, the researchers generated and then compared the alleles (the different variations each gene can take) of all affected and non-affected family members who were willing to participate in the study.

The researchers found strong evidence that a lung cancer susceptibility gene or genes is co-inherited with a genetic marker on chromosome 6. Markers on chromosomes 12, 14, and 20 also indicated possible linkage to lung cancer susceptibility, although the results were not as strong. Identifying the locus was a critical first step, but more work needs to be done.

"The genetic markers are like those mileage markers you see on the side of the highway," explained NCI's Jonathon Wiest, Ph.D. "They can be very useful for broad navigational purposes, but at the same time they don't give you precise information about all the interesting things that may lie along the highway."

The next goal for these researchers is to

Contact: Geoff Spencer
NIH/National Human Genome Research Institute

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