Wt. Briscoe et al., A NEW HIGH-FREQUENCY POLYMORPHISM IN THE HER-2 NEU ONCOGENE IN NORMALTISSUE AND BREAST-TUMORS/, Breast cancer research and treatment, 28(1), 1993, pp. 45-49
The HER-2/neu (erbB-2) oncogene, if amplified and/or overexpressed in
breast and ovarian cancers, is associated with a poor prognosis. Emplo
ying direct DNA sequencing, we have discovered and sequenced an 80 bas
e pair intron from human placenta which contains an A to G polymorphis
m. This polymorphism lends itself to restriction fragment length polym
orphism analysis of the PCR product spanning this intron. All three ge
notypes, homozygous A, heterozygous, and homozygous G appear in normal
control populations and breast tumors. Also, no difference was seen b
etween the polymorphic form found in five breast cancers and the corre
sponding normal tissue.