Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease

• Published in: Human molecular genetics Vol. 6; no. 8; pp. 1383 - 1387
• Main Authors: Nelen, Marcel R., van Staveren, Wilma C. G., Peeters, Els A. J., Ben Hassel, Mohammed, Gorlin, Robert J., Hamm, Henning, Lindboe, Christian F., Fryns, Jean-Pierre, Sijmons, Rolf H., Woods, D. Geoffrey, Mariman, Edwin C. M., Padberg, George W., Kremer, Hannie
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.08.1997
• Subjects: Adult; Biological and medical sciences; Chromosome Mapping; Chromosomes, Human, Pair 10; Dermatology; DNA Mutational Analysis; Female; Genes, Tumor Suppressor; Germ-Line Mutation; Hamartoma Syndrome, Multiple - genetics; Humans; Male; Medical sciences; Pedigree; Phosphoric Monoester Hydrolases; Protein Tyrosine Phosphatases - genetics; PTEN Phosphohydrolase; Tumor Suppressor Proteins; Tumors of the skin and soft tissue. Premalignant lesions; Genetic mapping; Human; Skin disease; Enzyme; Family study; Phosphoprotein phosphatase; Phosphoric monoester hydrolases; Esterases; Chromosome C10; Hamartoma; Genetic disease; Cowden syndrome; Hydrolases; Tumor; Genetics; Mutation; Tumor suppressor gene

Cowden disease, also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome with a high risk of breast and thyroid cancer. The gene involved has been localized to chromosome 10q22–23. Recently, the tumour suppressor gene PTEN/MMAC1, encoding a putative protein tyrosine or dua...