title: Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations.
abstract: We describe the clinical, radiological, and pathological findings of the diverse benign and malignant breast neoplasms found in association with Cowden syndrome. Patients with Cowden syndrome had a substantially increased risk of breast carcinoma. We find that 33% of the patients in our study population with Cowden disease have developed breast carcinoma to date. An association between Cowden disease and multiple tubular adenomas or breast hamartomas was found in two patients, suggesting a genetic origin. PTEN germ-line mutations were found in all four patients presenting with relevant benign or malignant breast pathology. We also assess the value of specific diagnostic tools used in the surveillance management. Screening mammography was useful in the diagnosis of small, high-grade carcinomas.
authors.affiliation: Unit of Breast Imaging, Department of Diagnostic Radiology, Hospital de Sant Pau, Barcelona, 08025, Spain. jabate@hsp.santpau.es
authors.forename: Josep M
authors.initials: JM
authors.lastname: Sabaté
authors.forename: Antonio
authors.initials: A
authors.lastname: Gómez
authors.forename: Sofía
authors.initials: S
authors.lastname: Torrubia
authors.forename: Carme
authors.initials: C
authors.lastname: Blancas
authors.forename: Gloria
authors.initials: G
authors.lastname: Sánchez
authors.forename: M C
authors.initials: MC
authors.lastname: Alonso
authors.forename: E
authors.initials: E
authors.lastname: Lerma
mesh_terms: D000293:Adolescent; D000328:Adult; D001943:Breast Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics*; D006801:Humans; D008327:Mammography; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D016217:Ultrasonography, Mammary
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human