CHEK2 Gene Mutations Predispose to Papillary Thyroid Cancer

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According to a study published in the International Journal of Cancer, researchers in Poland have found that cell cycle checkpoint kinase 2 (CHEK2) mutations predispose a person to thyroid cancer, familial aggregations of breast and thyroid cancer, and to double primary cancers of the breast and thyroid.

Mutations in the CHEK2 tumor suppressor gene are known to be associated with an increased risk for developing breast and prostate cancers, and because there may be a genetic association between breast and thyroid cancer, researchers sought to characterize the association of CHEK2 mutations with thyroid cancer.

For the study, researchers genotyped 468 unselected patients with papillary throid cancer and 468 matched cancer-free controls for four specific CHEK2 mutations.

Researchers also compared the family histories of patients with a CHEK2 mutation to their matched non-carriers. Results showed that 15.6% of unselected patients with papillary thyroid cancer had a CHEK2 mutations compared to 6.0% of matched controls (OR = 3.3; P < 0.0001).

In addition, researchers found that carriers of a CHEK2 mutations reported a family history of breast cancer over two times more often than non-carriers (16.4% versus 8.1%; P = 0.05). Researchers also found that seven of 11 women diagnosed with multiple primary cancers of the thyroid and breast (OR = 10; P = 0.0004).

Pancreatic Cancer: An Exocrine and Endocrine Disease
Checkpoint kinase 2 (CHEK2) mutations predispose a person to thyroid cancer.
Mutations in the CHEK2 tumor suppressor gene are associated with multi-organ cancer susceptibility including cancers of the breast and prostate. A genetic association between thyroid and breast cancer has been suggested, however little is known about the determinants of this association.
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