Tirkkonen M, Tanner M, Karhu R, Kallioniemi A, Isola J, Kallioniemi O P
Laboratory of Cancer Genetics, University and University Hospital, Tampere, Finland.
Genes Chromosomes Cancer. 1998 Mar;21(3):177-84.
Comparative genomic hybridization (CGH) reveals DNA sequence copy number changes that are shared among the different cell subpopulations present in a tumor and may help to delineate the average progression pathways of breast cancer. Previous CGH studies of breast cancer have concentrated on selected subgroups of breast cancer. Here, 55 unselected primary breast carcinomas were analyzed using optimized quality-controlled CGH procedures. Gains of 1q (67%) and 8q (49%) were the most frequent aberrations. Other recurrent gains were found at 33 chromosomal regions, with 16p, 5p12-14, 19q, 11q13-14, 17q12, 17q22-24, 19p, and 20q13 being most often (> 18%) involved. Losses found in > 18% of the tumors involved 8p, 16q, 13q, 17p, 9p, Xq, 6q, 11q, and 18q. The total number of aberrations per tumor was highest in poorly differentiated (P = 0.01) and in DNA aneuploid (P = 0.05) tumors. The high frequency of 1q gains and presence of +1q as the sole abnormality suggest that it is an early genetic event. In contrast, gains of 8q were most common in genetically and phenotypically advanced breast cancers. The vast majority of breast cancers (80%) have gains of 1q, 8q, or both, and 3 changes (+1q, +8q, or -13q) account for 91% of the tumors. In conclusion, CGH results indicate that certain chromosomal imbalances are very often selected for, sometimes in a preferential order, during the progression of breast cancer. Further studies of such common changes may form the basis for a molecular cytogenetic classification of breast cancer.
比较基因组杂交（CGH）可揭示肿瘤中不同细胞亚群共有的DNA序列拷贝数变化，并可能有助于描绘乳腺癌的平均进展途径。先前关于乳腺癌的CGH研究主要集中在乳腺癌的特定亚组。在此，我们使用优化的质量控制CGH程序对55例未经选择的原发性乳腺癌进行了分析。1q（67%）和8q（49%）的扩增是最常见的畸变。在33个染色体区域发现了其他复发性扩增，其中16p、5p12 - 14、19q、11q13 - 14、17q12、17q22 - 24、19p和20q13受累最为频繁（> 18%）。在超过18%的肿瘤中发现的缺失涉及8p、16q、13q、17p、9p、Xq、6q、11q和18q。每个肿瘤的畸变总数在低分化肿瘤（P = 0.01）和DNA非整倍体肿瘤（P = 0.05）中最高。1q扩增的高频率以及+1q作为唯一异常的存在表明它是一个早期遗传事件。相比之下，8q扩增在遗传和表型上进展的乳腺癌中最为常见。绝大多数乳腺癌（80%）有1q、8q或两者的扩增，并且三种变化（+1q、+8q或 - 13q）占肿瘤的91%。总之，CGH结果表明，在乳腺癌进展过程中，某些染色体失衡经常被选择，有时按优先顺序选择。对这些常见变化进行进一步研究可能构成乳腺癌分子细胞遗传学分类的基础。
