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Scientists have discovered two genetic variations that result in a substantially increased risk of thyroid cancer, according to the results of a study published in Nature Genetics.1

The thyroid is a gland in the throat that produces hormones mostly related to metabolic processes in the body. Approximately 37,000 new cases of thyroid cancer are diagnosed annually in the United States. Overall, thyroid cancer is considered to be a highly curable cancer, with 97% of individuals alive at least five years following diagnosis.

Researchers continue to study the causes and associated risk factors of all types of cancer in an effort to develop preventive strategies for these diseases. The expanding field of genetic testing may help identify people who are at an increased risk for developing certain types of cancer.

Scientists at deCODE genetics conducted a study in which they analyzed the genomes of more than 40,000 patients and control subjects in Iceland, the United States, and Spain. They found two single letter variations located on chromosomes 9q22 and 14q13 that conferred an increased risk of thyroid cancer. Approximately 4% of people of European descent carry two copies of these variants, and this puts them at a 5.7-times greater risk of developing thyroid cancer than individuals who have no copies of either variant. Furthermore, the genetic variants account for about 57% of all cases of thyroid cancer.

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The discovery of this genetic link to thyroid cancer has the potential to be useful among at-risk populations, such as families where one member has had thyroid cancer. In such situations, genetic testing could prove to be a useful preventive strategy for thyroid cancer.


1 Gudmundsson J, Sulem P, Gudbjartsson DF, et al. Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. Nature Genetics [online publication]. February 6, 2009. Doi:10.1038/ng.339