Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome. Issue 6 (December 1998)

• Record Type: Journal Article
• Authors: Raizis, A M; Ferguson, M M; Robinson, B A; Atkinson, C H; George, P M
• Is Part Of: Journal of clinical pathology. Volume 51:Issue 6(1998)
• Page Start: 339
• Page End: 341
• Publication Date: 1998-12
• Subjects: Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/mp.51.6.339
• Languages: English
• ISSNs: 0021-9746

Abstract

Abstract : Cowden disease is an autosomal dominant disorder associated with an increased risk of breast, thyroid, and skin cancer in which germline mutations in a candidate tumour suppressor gene (PTEN) have been identified previously. Sjögren's syndrome is a chronic inflammatory and autoimmune disorder of exocrine glands for which the genetic basis is unknown. This report describes a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome. This observation raises the possibility of a link between mutations in the PTEN gene and Sjögren's syndrome.