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Mol Path 51:339-341 doi:10.1136/mp.51.6.339

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

  1. A M Raizis,
  2. M M Ferguson,
  3. B A Robinson,
  4. C H Atkinson,
  5. P M George
  1. Department of Clinical Biochemistry, Christchurch Hospital, New Zealand.

      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.