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Mar 26 2008, 12:21 PM EST

Germline Homozygosity Linked to Cancer Predisposition

GEN News Highlights

People with a certain type of homozygosity may have a greater predisposition to cancer, according to a group of investigators. In previous research, the scientists observed a low frequency of germline heterozygosity in cancer patients compared with controls, raising the question whether homozygosity could play a role in cancer predisposition.

The researchers hypothesized that homozygosity might occur in the loci of cancer-susceptibility genes, which could contribute to cancer predisposition. They conducted a study to determine the frequency of germline homozygosity in a series of patients with three types of solid tumors. Results were compared with population-based controls. The study included germline and corresponding tumor DNA that was isolated from 385 patients (147 breast, 116 prostate, and 122 head and neck).

The researchers report that data derived from the three types of tumors and validated in a fourth demonstrates that high frequencies of germline homozygosity at specific markers are associated with the related cancers compared with controls. The team says that they were able to validate the observations in a lung carcinoma by showing an increased frequency of germline homozygosity in cancer cases compared with ancestry-matched controls.

Investigators from the Genomic Medicine Institute, Lerner Research Institute, Taussig Cancer Institute, Cleveland Clinic Foundation, Department of Genetics, Case Comprehensive Cancer Center, and Case Western Reserve University School of Medicine were involved in the research. The study is reported in the March 26 issue of JAMA.

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