title: Cowden syndrome presenting as breast cancer: imaging and clinical features.
abstract: Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.
authors.affiliation: Department of Radiology, Graduate School of Medicine, Kyung Hee University, Seoul 130-872, Korea.
authors.forename: Mirinae
authors.initials: M
authors.lastname: Seo
authors.affiliation: Department of Radiology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 110-744, Korea.
authors.forename: Nariya
authors.initials: N
authors.lastname: Cho
authors.affiliation: Department of Radiology, Chung-Ang University Hospital, Seoul 156-755, Korea.
authors.forename: Hye Shin
authors.initials: HS
authors.lastname: Ahn
authors.affiliation: Department of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 110-744, Korea.
authors.forename: Hyeong-Gon
authors.initials: HG
authors.lastname: Moon
mesh_terms: D001165:Arteriovenous Malformations / Q000000981:diagnostic imaging; D001943:Breast Neoplasms / Q000150:complications* / Q000175:diagnosis* / Q000000981:diagnostic imaging; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000150:complications* / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D051059:PTEN Phosphohydrolase / Q000235:genetics; D013964:Thyroid Neoplasms / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography; D055815:Young Adult
chemical_list: D004247:DNA; D051059:PTEN Phosphohydrolase
keywords: Breast cancer; Cowden syndrome; PTEN; Ultrasonography, MRI