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JMD 2002, Vol. 4, No. 2
Copyright © 2002 American Society for Investigative Pathology & Association for Molecular Pathology

A 39-bp Deletion Polymorphism in PTEN in African American Individuals

Implications for Molecular Diagnostic Testing

Xiao-Ping Zhou^*, Heather Hampel^*, Jennifer Roggenbuck, Nabil Saba, Thomas W. Prior and Charis Eng^*

From the Clinical Cancer Genetics and Human Cancer Genetics Programs, * the Comprehensive Cancer Center and the Division of Human Genetics, the Department of Internal Medicine, and the Department of Pathology, The Ohio State University, Columbus, Ohio; the Medical Genetics Program and the Division of Hematology/Oncology, the Department of Internal Medicine, the Hennepin County Medical Center and the University of Minnesota, Minneapolis, Minnesota; and the Cancer Research Campaign Human Cancer Genetics Research Group, University of Cambridge, Cambridge, United Kingdom

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 (IVS7–1553del39) 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.