Seitz S, Rohde K, Bender E, Nothnagel A, Kölble K, Schlag P M, Scherneck S
Department of Tumor Genetics, Max Delbrueck Center for Molecular Medicine, Berlin, Germany.
Oncogene. 1997 Feb 13;14(6):741-3. doi: 10.1038/sj.onc.1200881.
Chromosomal losses involving the short arm of chromosome 8 are frequent in a variety of tumor types, including breast cancer, suggesting the presence of one or more tumor suppressor genes in this region. Previous linkage analysis and studies of loss of heterozygosity (LOH) have suggested the presence of a putative third breast cancer susceptibility gene around D8S505 at 8p12-p22. We have performed linkage analysis in two German breast cancer families, showing negative lod scores with 17q and 13q markers, using seven adjacent microsatellite markers from 8p12-p22. Incorporating LOH data from tumors of the affected family members a maximum cumulative three-point lod score of 3.30 at theta = 0.00 was obtained with D8S137 and D8S131. Our findings considerably strengthen the evidence for a third breast cancer susceptibility locus (BRCA3) mapping to the short arm of human chromosome 8.
涉及8号染色体短臂的染色体缺失在包括乳腺癌在内的多种肿瘤类型中很常见，这表明该区域存在一个或多个肿瘤抑制基因。先前的连锁分析和杂合性缺失（LOH）研究表明，在8p12 - p22的D8S505附近存在一个推定的第三个乳腺癌易感基因。我们在两个德国乳腺癌家族中进行了连锁分析，使用来自8p12 - p22的七个相邻微卫星标记，结果显示与17q和13q标记的lod分数为阴性。结合受影响家庭成员肿瘤的LOH数据，D8S137和D8S131在θ = 0.00时获得了最大累积三点lod分数3.30。我们的研究结果大大加强了第三个乳腺癌易感位点（BRCA3）定位于人类8号染色体短臂的证据。
