Article
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
Human molecular genetics - 1 Mar 1998
Marsh D J, Coulon V, Lunetta K L, Rocca-Serra P, Dahia P L, Zheng Z, Liaw D, Caron S, Duboué B, Lin A Y, Richardson A L, Bonnetblanc J M, Bressieux J M, Cabarrot-Moreau A, Chompret A, Demange L, Eeles R A, Yahanda A M, Fearon E R, Fricker J P, Gorlin R J, Hodgson S V, Huson S, Lacombe D, Eng C
Abstract excerpt
The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403 amino acid dual specificity phosphatase (protein tyrosine phosphatase; PTPase), was shown recently to play a broad role in human malignancy. Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and...
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