Niederacher D, Schnürch H G, An H X, Ellenberger I, Dall P, van Roeyen C R, Küppers V, Beckmann M W
Department of Gynaecology and Obstetrics, Heinrich-Heine-Universität, Düsseldorf, Germany.
Eur J Cancer Prev. 1996 Dec;5(6):497-503.
Breast cancer emerges as a multistep process with transformation of normal cells via steps of hyperplasia, premalignant change and in situ carcinoma. Cytogenetic and molecular genetic analyses of breast cancer samples indicate that tumour development involves the accumulation of various genetic alterations, including amplification of oncogenes and mutation or loss of tumour suppressor genes. Microdissection of histological sections is needed to correlate the specific histological change and the genetic alteration. For detection of oncogene amplification quantitative differential polymerase chain reaction (PCR) can be used. For assessment of loss of heterozygosity PCR-based microsatellite polymorphisms detecting differences in short tandem repeat sequences are much more informative than standard two-allele restriction fragment length polymorphism markers. Still, the direct correlation of the genetic alterations to specific histological findings is the key to reveal insight into tumour biology and thereby gain prognostic information for the individual breast cancer patient.
乳腺癌是一个多步骤过程，正常细胞通过增生、癌前病变和原位癌等步骤发生转变。对乳腺癌样本的细胞遗传学和分子遗传学分析表明，肿瘤发展涉及多种基因改变的积累，包括癌基因扩增以及肿瘤抑制基因的突变或缺失。需要对组织切片进行显微切割，以关联特定的组织学变化和基因改变。检测癌基因扩增可使用定量差异聚合酶链反应（PCR）。评估杂合性缺失时，基于PCR的微卫星多态性检测短串联重复序列的差异，比标准的双等位基因限制性片段长度多态性标记更具信息性。尽管如此，基因改变与特定组织学发现的直接关联仍是深入了解肿瘤生物学从而为个体乳腺癌患者获取预后信息的关键。
