Mutational analyses of RB and BRCA2 as candidate tumour suppressor genes in parathyroid carcinoma

Mutational analyses of RB and BRCA2 as candidate tumour suppressor genes in parathyroid carcinoma
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甲状旁腺癌候选抑癌基因RB和BRCA2的突变分析

DOI:
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发表时间:
2003
影响因子:
3.2
通讯作者:
A. Arnold
A. Arnold
中科院分区:
医学3区
文献类型:
--
作者:
T. Shattuck;Teresa S. Kim;Jéssica Costa;D. Yandell;Y. Imanishi;N. Palanisamy;R. Gaz;D. Shoback;O. Clark;J. Monchik;M. Wierman;A. Hollenberg;K. Tojo;R. Chaganti;A. Arnold

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目的强有力的证据表明,至少有一个与恶性甲状旁腺肿瘤发生发展有关的关键抑癌基因位于13号染色体上,但关键的靶基因尚不清楚。重要的是,获得性DNA丢失的区域包括两个已建立的肿瘤抑制基因,视网膜母细胞瘤基因Rb(RB1)和BRCA2。要确定Rb或BRCA2是否是甲状旁腺癌中关键的13q抑癌基因,需要分析这些基因的基因内失活突变序列。因此,在一组甲状旁腺癌中分析了Rb和BRCA2,这些基因的突变应该最容易被检测到。
objective Strong evidence indicates that at least one key tumour suppressor gene important for the development of malignant parathyroid tumours is located on chromosome 13, but the critical target gene remains unknown. Importantly, the region of acquired DNA loss includes two established tumour suppressor genes, the retinoblastoma gene, RB (RB1) and BRCA2. Resolution of whether RB or BRCA2 is the critical 13q tumour suppressor gene in parathyroid cancer requires analysis of these genes’ sequences for intragenic inactivating mutations. Therefore, RB and BRCA2 were analysed in a group of parathyroid carcinomas in which mutations of these genes should be most readily detectable.
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