Briscoe W T, Ray D B, Airhart J L, Ratliff A L, Shockley E A, Whetsell L, Schaefer F V, Williams R M
Cancer Treatment Research Foundation, Tulsa, OK 74137.
Breast Cancer Res Treat. 1993 Oct;28(1):45-9. doi: 10.1007/BF00666355.
The HER-2/neu (erbB-2) oncogene, if amplified and/or overexpressed in breast and ovarian cancers, is associated with a poor prognosis. Employing direct DNA sequencing, we have discovered and sequenced an 80 base pair intron from human placenta which contains an A to G polymorphism. This polymorphism lends itself to restriction fragment length polymorphism analysis of the PCR product spanning this intron. All three genotypes, homozygous A, heterozygous, and homozygous G appear in normal control populations and breast tumors. Also, no difference was seen between the polymorphic form found in five breast cancers and the corresponding normal tissue.
HER-2/neu（erbB-2）癌基因在乳腺癌和卵巢癌中若发生扩增和/或过表达，则与预后不良相关。通过直接DNA测序，我们从人胎盘中发现并测序了一个80个碱基对的内含子，该内含子存在A到G的多态性。这种多态性适用于对跨越该内含子的PCR产物进行限制性片段长度多态性分析。纯合A、杂合和纯合G这三种基因型均出现在正常对照人群和乳腺肿瘤中。此外，在5例乳腺癌中发现的多态性形式与相应的正常组织之间未观察到差异。
