Cowden Syndrome

Journal of Genetic Counseling
C Eng

Abstract

Cowden syndrome is an autosomal dominant inherited cancer syndrome characterized by multiple hamartomas which may develop in any organ. Mucocutaneous papillomas and trichilemmomas are hallmarks of the syndrome. Affected individuals are at high risk of developing both benign and malignant disease of the thyroid and breast. Epithelial thyroid carcinoma occurs in 3-10% of affected individuals while women have a 25-50% lifetime risk of developing adenocarcinoma of the breast. Because of the cancer risk, it is imperative that health care providers recognize Cowden syndrome. The susceptibility gene has been localized to 10q22-23 and preliminary studies demonstrate no genetic heterogeneity.

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