(ChemotherapyAdvisor) – Using the power of pedigree study, researchers have identified a gene mutation linked to throat cancer. The linkage analysis uncovered the abnormality in a family with ten members that had developed the disease.

In a paper titled “Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome”, published February 16 in the American Journal of Genetics, a publication of the American Society for Human Genetics, researchers found the mutation in ATR, a gene which stands for ataxia telangiectasia and Rad3 related and plays a key role in maintaining genome integrity by controlling important cellular processes pertinent to oncogenesis such as DNA replication and cell cycle control. The study was authored by Tanaka et al., and was a collaboration between several research institutions including King College, London, and Hiroshima University, Japan.

Mutations in ATR had been previously linked to other genetic disorders but not to throat cancer. In this study, the authors found a functionally compromised ATR gene, which translated into an autosomal-dominant inherited disease manifesting as throat cancer and other genetic disorders that affected 24 individuals in a five-generation pedigree. Further chromosomal and DNA sequencing analysis revealed that ATR contained a heterozygous missense mutation that occurs within an area of the ATR proteins that can activate p53 oncogene and thus lead to the malignancy.

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