Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3
Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3
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DOI：
10.1038/sj.bjc.6690168
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发表时间：
1999-03-01
影响因子：
8.8
通讯作者：
Cornelisse, CJ
中科院分区：
文献类型：
--
作者：
Cleton-Jansen, AM;Moerland, EW;Cornelisse, CJ
最近发现的Fanconi贫血A （FAA）基因位于染色体16q24.3带，该区域经常被报道在乳腺癌中显示杂合性缺失（LOH）。对19例16q24.3位点特异性LOH的乳腺肿瘤进行了FAA突变分析。cDNA和基因组DNA的单链构象多态性（SSCP）分析和Southern blotting未能发现任何肿瘤特异性突变。鉴定出5个多态性，但发生频率与正常对照人群没有偏离。因此，在乳腺癌中，FAA基因并不是LOH在16q24.3位点靶向的基因。该染色体区域的另一个肿瘤抑制基因仍有待鉴定。
The recently identified Fanconi anaemia A (FAA) gene is located on chromosomal band 16q24.3 within a region that has been frequently reported to show loss of heterozygosity (LOH) in breast cancer. FAA mutation analysis of 19 breast tumours with specific LOH at 16q24.3 was performed. Single-stranded conformational polymorphism (SSCP) analysis on cDNA and genomic DNA, and Southern blotting failed to identify any tumour-specific mutations. Five polymorphisms were identified, but frequencies of occurrence did not deviate from those in a normal control population. Therefore, the FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer. Another tumour suppressor gene in this chromosomal region remains to be identified.