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16q24.3杂合性缺失的乳腺肿瘤中范可尼贫血A基因的突变分析。

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

作者信息

Cleton-Jansen A M, Moerland E W, Pronk J C, van Berkel C G, Apostolou S, Crawford J, Savoia A, Auerbach A D, Mathew C G, Callen D F, Cornelisse C J

机构信息

Department of Pathology, Leiden University Medical Center, The Netherlands.

出版信息

Br J Cancer. 1999 Mar;79(7-8):1049-52. doi: 10.1038/sj.bjc.6690168.

DOI:10.1038/sj.bjc.6690168
PMID:10098735
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2362253/
Abstract

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.

摘要

最近鉴定出的范可尼贫血A（FAA）基因位于染色体16q24.3带上，该区域在乳腺癌中经常报道显示杂合性缺失（LOH）。对19例在16q24.3处有特定LOH的乳腺肿瘤进行了FAA突变分析。对cDNA和基因组DNA进行单链构象多态性（SSCP）分析以及Southern印迹分析均未发现任何肿瘤特异性突变。鉴定出五个多态性，但出现频率与正常对照人群无差异。因此，FAA基因不是乳腺癌中16q24.3处LOH所靶向的基因。该染色体区域的另一个肿瘤抑制基因仍有待鉴定。

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