13号染色体q臂上等位基因失衡：BRCA2和RB1参与散发性乳腺癌的证据
Allelic imbalance on chromosome 13q: evidence for the involvement of BRCA2 and RB1 in sporadic breast cancer.
作者信息
Hamann U, Herbold C, Costa S, Solomayer E F, Kaufmann M, Bastert G, Ulmer H U, Frenzel H, Komitowski D
机构信息
Deutsches Krebsforschungszentrum, Division of Molecular Genome Analysis, Heidelberg, Germany.
出版信息
Cancer Res. 1996 May 1;56(9):1988-90.
Recently, the breast cancer susceptibility gene BRCA2 has been identified in chromosome 13q, a region that also contains the retinoblastoma gene RB1. To elucidate a possible role of BRCA2 and RB1 in sporadic breast tumorigenesis, allelic imbalance (AI) at 13q loci was examined in 78 primary sporadic breast tumors. AI was found in 52-63% of tumors. Nine tumors showed AI only in the BRCA2 region but not at RB1. Six tumors showed AI at RB1 but not in the BRCA2 region. AI in the BRCA2 region correlated significantly with aneuploidy (P = 0.032) and AI at RB1 with small tumor size (P = 0.025). Our data suggest that BRCA2 and RB1 may be both distinct target loci for AI on chromosome 13 in sporadic breast cancer.
最近，乳腺癌易感基因BRCA2在13号染色体长臂上被鉴定出来，该区域还包含视网膜母细胞瘤基因RB1。为了阐明BRCA2和RB1在散发性乳腺肿瘤发生中的可能作用，我们检测了78例原发性散发性乳腺肿瘤中13号染色体长臂位点的等位基因不平衡（AI）情况。在52%-63%的肿瘤中发现了AI。9例肿瘤仅在BRCA2区域显示AI，而在RB1区域未显示。6例肿瘤在RB1区域显示AI，但在BRCA2区域未显示。BRCA2区域的AI与非整倍体显著相关（P = 0.032），而RB1区域的AI与肿瘤体积小相关（P = 0.025）。我们的数据表明，BRCA2和RB1可能都是散发性乳腺癌中13号染色体上等位基因不平衡的不同靶位点。
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