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2002: Researchers Find Genetic Variation Associated with Prostate Cancer

Image of Single Nucleotide Polymorphisms and people in the background

Researchers identified a gene on chromosome 1 associated with a hereditary form of prostate cancer. The work was a collaboration between researchers at the National Human Genome Research Institute, Johns Hopkins Medical Institutions, and The Cleveland Clinic. Previously, the researchers had studied families with high risks for prostate cancer and identified regions of chromosomes 1, 17, 20, and X as being associated with the higher risk. The newly identified gene on chromosome 1 is called ribonuclease L or RNASEL. The researchers cautioned that mutations in this gene do not account for most cases of hereditary prostate cancer and also do not account for the majority of cases that arise through spontaneous mutations. Even so, the discovery can lead to a useful diagnostic test and allow men with the mutation to begin earlier treatment for the disease.


More Information


Carpten, J. , Nupponen, N., Isaacs, S., Sood, R., et al. Germline mutations in the ribonuclease L gene in hereditary prostate cancer 1 (HPC1) linked families. Nature Genetics, 30: 181-184. 2002. [PubMed]


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Last updated: August 15, 2013