0226 Report of Cowden's syndrome in patient with PTEN mutation
نویسندگان
چکیده
منابع مشابه
First Polish Cowden syndrome patient with confirmed PTEN gene mutation
Cowden syndrome is a rare hereditary disease. Incidence of the disease is conditioned by occurrence of mutations in the PTEN gene. The disease has a frequency of 1/120,000 newborn and it predisposes to the occurrence of hamartoma polyps in the gastrointestinal tract, skin tumours, as well as tumours of the breast, ovary and thyroid. Here we describe the case of a Polish patient diagnosed with C...
متن کاملIdentification of a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome.
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 ...
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Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there i...
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ژورنال
عنوان ژورنال: The Breast
سال: 2009
ISSN: 0960-9776
DOI: 10.1016/s0960-9776(09)70243-7