Cowden Syndrome: A single institution case series and literature review

Abstract Objective Cowden Syndrome belongs to a group of disorders that are associated with germline mutations in the tumor suppressor gene, phosphatase and tensin homolog (PTEN). The prevalence has been estimated to be 1 in 200,000–250,000. However, this prevalence may be underestimated due to many factors. Better understand Cowden Syndrome among our local population to provide genetic counseling and appropriate screening for different types of neoplasms associated to Cowden Syndrome. Clinical case Case series analysis based on data maintained by the Breast Cancer and Hereditary Cancer Departments of the AC Camargo Cancer Center, a large specialized hospital in Brazil. Results Five cases are presented according to their diagnostic criteria, cancer rates, and outcomes for Cowden Syndrome. Conclusion These cases highlight the need for a multi-institutional evaluation of Cowden Syndrome cases in order to better comprehend its prevalence in Brazil. To improve the outcome of patients with CS, a greater understanding of this syndrome is needed, as well as recognition of the value of periodic screening.