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A Milestone in Cancer Genetics: deCODE Discovers First Common Genetic Variants Affecting the Risk of Many Types of Cancer
Date:1/18/2009

th of the telomeres, or the tail ends of chromosomes. Shorter telomeres have recently been linked to risk of certain cancers, and telomeres are known to become shorter with the accumulation of environmental insults over time. These findings may point us towards a means of addressing these risks by altering our lifestyle or by helping to identify targets for new drugs. We are integrating the SNPs into deCODEme(TM), and into our deCODEme Cancer Scan(TM) launched today," said Kari Stefansson, CEO of deCODE and senior author on the paper.

deCODE discovered the first variant, a SNP called rs 401681, in its gene discovery work on basal cell carcinoma (BCC), a common form of skin cancer. The SNP is in the gene encoding cisplatin resistance related protein 9 (CLPTM1L). Because the region of chromosome 5p15 is of interest in cancer biology, the deCODE team then tested this SNP for association with 16 different types of cancer in a total of nearly 80,000 cancer patients and healthy control subjects from Iceland, the Netherlands, Italy, Sweden, Spain, Germany, Hungary, the United Kingdom, Belgium, Romania, Slovakia and the United States. Rs 401681 was found to confer increased risk not only of BCC, but also cancer of the lung, bladder, prostate and cervix, and was also found to protect against melanoma. It is of interest here that the risks of cancers of lung, bladder, prostate and cervix are greater in individuals with shorter telomeres than long, whereas those with long telomeres are at greater risk of melanoma. Through a more detailed analysis of this region, another SNP, rs2736089, was associated with increased risk of BCC and also with risk of cancer of the lung, bladder and prostate. Rs 2736089 is located in the gene encoding the human telomerase reverse transcriptase (TERT), which directs the addition of repeat DNA sequences to the ends of chromosomes. Importantly, the risk of these different cancers conferred by these two SNPs app
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