Epidemiological studies have suggested that the breast cancer susceptibilit
y genes, BRCA1 and BRCA2, may be involved in the development of prostate ca
ncer. Several studies have screened prostate cancer populations for the pre
sence of BRCA1 and BRCA2 mutations, with few mutations identified. In this
study, 22 high-risk prostate cancer families (at least three cases of prost
ate cancer) were screened by conformation-sensitive gel electrophoresis (CS
GE) for mutations in BRCA1 and BRCA2. To maximize the chance of finding mut
ations in these two genes, families were also selected for the presence of
at least two cases of breast and/or ovarian cancer. We identified one previ
ously reported BRCA2 missense mutation and two previously unreported BRCA2
intron polymorphisms. No BRCA1 or BRCA2 truncating mutations were detected.
Thus, BRCA1 and BRCA2 appear to have a limited role in familial prostate c
ancer, and families with both prostate and breast cancer may result From mu
tations in other predisposition genes.