PTEN polymorphism (IVS4) is not associated with risk of prostate cancer.

Introduction Germline polymorphisms in several genes important to the pathogenesis of prostate cancer have been associated with an increased incidence of disease. A recently identified tumor suppressor gene, PTEN/MMAC1/TEP1, may also have an important role in prostate carcinogenesis and progression. Previous reports have demonstrated frequent loss of PTEN expression in localized prostate cancer specimens, which have been associated with poor prognostic clinical features (1, 2). In breast cancer patients with a positive family history of disease, there was no increased association with PTEN mutations. However, a frequent polymorphism, referred to as IVS4, located at 2101109ins5, in which an ACTAA insertion occurs 109 bp downstream of exon 4 in intron 4, was associated with a lower mean age of diagnosis (3). Therefore, we performed a casecontrol study nested within the Physicians’ Health Study to determine whether this particular polymorphism was associated with risk of prostate cancer or with clinical features of aggressive disease.