Knuutila S, Aalto Y, Autio K, Björkqvist A M, El-Rifai W, Hemmer S, Huhta T, Kettunen E, Kiuru-Kuhlefelt S, Larramendy M L, Lushnikova T, Monni O, Pere H, Tapper J, Tarkkanen M, Varis A, Wasenius V M, Wolf M, Zhu Y
Department of Medical Genetics, Haartman Institute University of Helsinki, Finland.
Am J Pathol. 1999 Sep;155(3):683-94. doi: 10.1016/S0002-9440(10)65166-8.
This review summarizes reports of recurrent DNA sequence copy number losses in human neoplasms detected by comparative genomic hybridization. Recurrent losses that affect each of the chromosome arms in 73 tumor types are tabulated from 169 reports. The tables are available online at http://www.amjpathol.org and http://www. helsinki.fi/ approximately lglvwww/CMG.html. The genes relevant to the lost regions are discussed for each of the chromosomes. The review is supplemented also by a list of known and putative tumor suppressor genes and DNA repair genes (see Table 1, online). Losses are found in all chromosome arms, but they seem to be relatively rare at 1q, 2p, 3q, 5p, 6p, 7p, 7q, 8q, 12p, and 20q. Losses and their minimal common overlapping areas that were present in a great proportion of the 73 tumor entities reported in Table 2 (see online) are (in descending order of frequency): 9p23-p24 (48%), 13q21 (47%), 6q16 (44%), 6q26-q27 (44%), 8p23 (37%), 18q22-q23 (37%), 17p12-p13 (34%), 1p36.1 (34%), 11q23 (33%), 1p22 (32%), 4q32-qter (31%), 14q22-q23 (25%), 10q23 (25%), 10q25-qter (25%),15q21 (23%), 16q22 (23%), 5q21 (23%), 3p12-p14 (22%), 22q12 (22%), Xp21 (21%), Xq21 (21%), and 10p12 (20%). The frequency of losses at chromosomes 7 and 20 was less than 10% in all tumors. The chromosomal regions in which the most frequent losses are found implicate locations of essential tumor suppressor genes and DNA repair genes that may be involved in the pathogenesis of several tumor types.
本综述总结了通过比较基因组杂交检测到的人类肿瘤中反复出现的DNA序列拷贝数缺失的报告。从169篇报告中列出了影响73种肿瘤类型中各染色体臂的反复缺失情况。这些表格可在以下网站在线获取:http://www.amjpathol.org和http://www.helsinki.fi/ approximately lglvwww/CMG.html。针对每条染色体讨论了与缺失区域相关的基因。本综述还补充了一份已知和推定的肿瘤抑制基因及DNA修复基因列表(见在线表1)。所有染色体臂均发现有缺失,但在1q、2p、3q、5p、6p、7p、7q、8q、12p和20q上似乎相对少见。表2(见在线)中报告的73种肿瘤实体中很大比例存在的缺失及其最小共同重叠区域(按频率降序排列)为:9p23 - p24(48%)、13q21(47%)、6q16(44%)、6q26 - q27(44%)、8p23(37%)、18q22 - q23(37%)、17p12 - p13(34%)、1p36.1(34%)、11q23(33%)、1p22(32%)、4q32 - qter(31%)、14q22 - q23(25%)、10q23(25%)、10q25 - qter(25%)、15q21(23%)、16q22(23%)、5q21(23%)、3p12 - p14(22%)、22q12(22%)、Xp21(21%)、Xq21(21%)和10p12(20%)。在所有肿瘤中,7号和20号染色体上的缺失频率均低于10%。发现缺失最频繁的染色体区域涉及可能参与多种肿瘤类型发病机制的重要肿瘤抑制基因和DNA修复基因的定位。