Xp22.2 - 3杂合性缺失与卵巢癌中的种系BRCA1突变相关。
Xp22.2-3 loss of heterozygosity is associated with germline BRCA1 mutation in ovarian cancer.
作者信息
Buekers T E, Lallas T A, Buller R E
机构信息
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Iowa Hospitals and Clinics, 4630 JCP, 200 Hawkins Drive, Iowa City, Iowa 52242, USA.
出版信息
Gynecol Oncol. 2000 Mar;76(3):418-22. doi: 10.1006/gyno.1999.5713.
OBJECTIVE
X-Chromosome loss of heterozygosity (LOH) occurs in approximately 40% of ovarian cancers. We have previously demonstrated an association between nonrandom X-chromosome inactivation and germline BRCA1 mutation. The current study examines the association between X-chromosome LOH and BRCA1 mutation.
METHODS
Ninety tumor DNA (81 ovary, 5 fallopian tube, 4 primary peritoneal) and matched peripheral blood mononuclear cell DNA samples were examined for LOH with 11 X-chromosome microsatellite DNA markers.
RESULTS
Tumor DNA demonstrated frequent LOH at the Xp22.2-3 region (37.7% at DXS6807). Loss of heterozygosity on Xp was twice as common in tumor DNA from germline BRCA1 mutation carriers (9/14 vs 19/67, P = 0.02). In four evaluable samples, Xp22.2-3 LOH preferentially occurred from the active X allele.
CONCLUSIONS
Our data support the hypothesis that an Xp22.2-3 gene product interacts with or modifies the expression of BRCA1 in some hereditary ovarian cancers.
目的
X染色体杂合性缺失（LOH）发生于约40%的卵巢癌中。我们之前已证实非随机X染色体失活与种系BRCA1突变之间存在关联。本研究检测X染色体LOH与BRCA1突变之间的关联。
方法
采用11个X染色体微卫星DNA标记，对90份肿瘤DNA（81份卵巢、5份输卵管、4份原发性腹膜）及匹配的外周血单个核细胞DNA样本进行LOH检测。
结果
肿瘤DNA在Xp22.2 - 3区域显示出频繁的LOH（DXS6807处为37.7%）。种系BRCA1突变携带者的肿瘤DNA中Xp杂合性缺失的发生率是其他肿瘤DNA的两倍（9/14 vs 19/67，P = 0.02）。在4份可评估样本中，Xp22.2 - 3 LOH优先发生于活性X等位基因。
结论
我们的数据支持这样的假说，即在某些遗传性卵巢癌中，Xp22.2 - 3基因产物与BRCA1相互作用或修饰其表达。
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