Weber-Mangal Susanne, Sinn Hans-Peter, Popp Susanne, Klaes Rüdiger, Emig Robert, Bentz Martin, Mansmann Ulrich, Bastert Gunther, Bartram Claus R, Jauch Anna
Institute of Human Genetics, University of Heidelberg, Germany.
Int J Cancer. 2003 Nov 20;107(4):583-92. doi: 10.1002/ijc.11460.
Sporadic breast cancer in young women is different from the one in older patients regarding pathological features and aggressiveness of the tumors, but the spectrum of genetic alterations are largely unknown. We used comparative genomic hybridization (CGH) to analyze DNA copy number changes in 88 tumor samples from women </=35 years of age. Findings were compared to histopathological data including tumor type, grading, lymph nodes and metastasis. Genomic gains clustered to chromosome arms 1q (64.8%), 8q (61.4%), 17q (50.0%), 20q (33.0%), 3q (20.5%), 1p (17.0%), 5p (17.0%) and 15q (17%). Losses were commonly located on 8p (19.3 %), 11q (11.4%), 16q (11.4%), 17p (11.4%) and 18q (10.2%). A comparison with published CGH data from breast carcinomas of similar type and grade showed the following differences: (1) gains were much more frequent than losses, and (2) losses on 8p22-p23 were more prevalent in patients with positive lymph node metastasis (p = 0.02), and Grade III tumors were associated with gains on the long arm of chromosome 8 (p = 0.01). Therefore, alterations in these genomic regions may be responsible for the reduced survival of patients with early onset breast cancer.
年轻女性的散发性乳腺癌在肿瘤的病理特征和侵袭性方面与老年患者不同，但基因改变的情况在很大程度上尚不清楚。我们使用比较基因组杂交（CGH）技术分析了88例年龄≤35岁女性的肿瘤样本中的DNA拷贝数变化。将结果与包括肿瘤类型、分级、淋巴结和转移情况在内的组织病理学数据进行了比较。基因组增加主要集中在染色体臂1q（64.8%）、8q（61.4%）、17q（50.0%）、20q（33.0%）、3q（20.5%）、1p（17.0%）、5p（17.0%）和15q（17%）。缺失通常位于8p（19.3%）、11q（11.4%）、16q（11.4%）、17p（11.4%）和18q（10.2%）。与已发表的类似类型和分级的乳腺癌CGH数据比较显示出以下差异：（1）增加比缺失更频繁；（2）8p22 - p23的缺失在淋巴结转移阳性患者中更常见（p = 0.02），III级肿瘤与8号染色体长臂的增加相关（p = 0.01）。因此，这些基因组区域的改变可能是早发性乳腺癌患者生存率降低的原因。
