The PTEN/MMAC1/TEP1 gene, located at 10q23.3, is a tumor suppressor ge
ne responsible for the familial cancer syndromes Cowden disease and Ba
nnayan-Zonana syndrome, and is commonly somatically mutated in several
types of cancers. Mutations of the PTEN gene have been found in prost
ate cancer cell lines and LOH at 10q22-24 in prostate tumors have also
been described with a high frequency. To determine the role of this g
ene in prostate tumorigenesis, we therefore analysed 22 primary tumors
for loss of heterozygosity (LOH) within the 10q22-23 region such that
tumors hemizygous at those loci may be examined for somatic PTEN muta
tions. Losses of heterozygosity of at least one locus was found in 12
(55%) of the 22 tumors DNAs. Among these, six tumors exhibited allele
loss in the interval between D10S1765 and D10S541 wherein lies the PTE
N gene. We searched the entire coding region of PTEN for somatic mutat
ions in these six tumors. One somatic mutation (17%), a 1 bp deletion,
was detected in exon 7 of the gene, in ode tumor, indicating that som
atic mutations of the PTEN gene may occur in primary prostate tumors.