1. A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing.
- Author
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Zhou XP, Hampel H, Roggenbuck J, Saba N, Prior TW, and Eng C
- Subjects
- Base Sequence, DNA Primers chemistry, Genes, Tumor Suppressor, Germ-Line Mutation, Heterozygote, Humans, Japan epidemiology, PTEN Phosphohydrolase, Polymerase Chain Reaction, Polymorphism, Genetic, Sequence Deletion, White People genetics, Black or African American, Black People genetics, Hamartoma Syndrome, Multiple diagnosis, Hamartoma Syndrome, Multiple genetics, Phosphoric Monoester Hydrolases genetics, Proteus Syndrome diagnosis, Proteus Syndrome genetics, Tumor Suppressor Proteins genetics
- Abstract
Germline mutations in the PTEN/MMAC1/TEP1 tumor suppressor gene cause Cowden syndrome (CS), a hereditary hamartoma-tumor syndrome with an increased risk of breast, thyroid, and endometrial cancers, and seemingly unrelated developmental disorders, such as Bannayan-Riley-Ruvalcaba (BRR) syndrome, Proteus, and Proteus-like syndromes. Data to date suggest that irrespective of the clinical presentation, the identification of a PTEN mutation should trigger medical management which includes cancer surveillance. Clinic-based molecular diagnostic testing for germline PTEN mutations has been available for at least 2 years. This study reports on the finding of a previously unobserved heterozygous alteration (IVS7-15-->53del39) found in an African American individual who had features of CS. Further investigation revealed that 12 of 42 (28.6%) African American controls, but not individuals of Caucasian or Japanese origin, also carried this heterozygous 39-bp deletion in PTEN. Due to its location immediately upstream of the splicing site of exon 8, this polymorphism could be mistaken for a deleterious mutation in the PTEN.
- Published
- 2002
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