Dorion-Bonnet F, Mautalen S, Hostein I, Longy M
Department of Molecular Oncology, Instutut Bergonié, Bordeaux, France.
Genes Chromosomes Cancer. 1995 Nov;14(3):171-81. doi: 10.1002/gcc.2870140304.
The high incidence of allelic imbalance on the long arm of chromosome 16 in breast cancer suggests its involvement in the development and progression of the tumor. Several loss of heterozygosity (LOH) studies have led to the assignment of commonly deleted regions on 16q where tumor suppressor genes may be located. The most recurrent LOH regions have been 16q22.1 and 16q22.4-qter. The aim of this study was to gain further insight into the occurrence of one or multiple "smallest regions of overlap" on 16q in a new series of breast carcinomas. Hence, a detailed allelic imbalance map was constructed for 46 sporadic breast carcinomas, using 11 polymorphic microsatellite markers located on chromosome 16. Allelic imbalance of one or more markers on 16q was shown by 30 of the 46 tumors (65%). Among these 30 carcinomas, LOH on the long arm of chromosome 16 was detected at all informative loci in 19 (41%); 13 of them showed allelic imbalance on the long but not on the short arm, with the occurrence of variable "breakpoints" in the pericentromeric region. The partial allelic imbalance in 11 tumors involved either the 16q22.1-qter LOH region or interstitial LOH regions. A commonly deleted region was found between D16S421 and D16S289 on 16q22.1 in 29 of the 30 tumors. The present data argue in favor of an important involvement of a tumor suppressor gene mapping to 16q22.1 in the genesis or progression of breast cancer.
乳腺癌中16号染色体长臂上等位基因失衡的高发生率表明其与肿瘤的发生和发展有关。多项杂合性缺失（LOH）研究已确定了16q上常见的缺失区域，肿瘤抑制基因可能位于这些区域。最常见的LOH区域是16q22.1和16q22.4 - qter。本研究的目的是进一步深入了解一系列新的乳腺癌中16q上一个或多个“最小重叠区域”的情况。因此，利用位于16号染色体上的11个多态性微卫星标记，为46例散发性乳腺癌构建了详细的等位基因失衡图谱。46例肿瘤中有30例（65%）显示16q上一个或多个标记存在等位基因失衡。在这30例癌中，19例（41%）在所有信息位点均检测到16号染色体长臂上的LOH；其中13例在长臂而非短臂上显示等位基因失衡，着丝粒周围区域出现了可变的“断点”。11例肿瘤中的部分等位基因失衡涉及16q22.1 - qter LOH区域或间质LOH区域。在30例肿瘤中的29例中发现16q22.
