神经纤维瘤病2基因核苷酸序列改变在人类乳腺癌中的低发生率。
Low incidence of a nucleotide sequence alteration of the neurofibromatosis 2 gene in human breast cancers.
作者信息
Yaegashi S, Sachse R, Ohuchi N, Mori S, Sekiya T
机构信息
Oncogene Division, National Cancer Center Research Institute, Tokyo.
出版信息
Jpn J Cancer Res. 1995 Oct;86(10):929-33. doi: 10.1111/j.1349-7006.1995.tb03003.x.
Abstract
We investigated aberrations of the neurofibromatosis type 2 (NF2) gene in breast tumors of 60 patients by single-strand conformation polymorphism analysis of polymerase chain reaction products followed by nucleotide sequencing. We detected a tumor-specific single-base substitution in codon 398 in exon 12 of the gene, resulting in an alteration of a single amino acid, in DNA from a breast cancer sample. The results indicated possible but infrequent involvement of mutations of the tumor suppressor NF2 gene in human breast cancers.
摘要
我们通过聚合酶链反应产物的单链构象多态性分析并随后进行核苷酸测序，研究了60例患者乳腺肿瘤中2型神经纤维瘤病（NF2）基因的畸变情况。我们在一份乳腺癌样本的DNA中检测到该基因第12外显子398密码子处存在肿瘤特异性单碱基替换，导致一个氨基酸发生改变。结果表明肿瘤抑制基因NF2的突变可能参与人类乳腺癌的发生，但这种情况并不常见。
相似文献
1
Low incidence of a nucleotide sequence alteration of the neurofibromatosis 2 gene in human breast cancers.
Jpn J Cancer Res. 1995 Oct;86(10):929-33. doi: 10.1111/j.1349-7006.1995.tb03003.x.
2
Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas.
Hum Genet. 1996 May;97(5):632-7. doi: 10.1007/BF02281874.
3
Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas.
Int J Cancer. 1995 Aug 22;64(4):243-7. doi: 10.1002/ijc.2910640406.
4
Analysis of the neurofibromatosis 2 gene in human breast and hepatocellular carcinomas.
Jpn J Clin Oncol. 1995 Feb;25(1):1-4.
5
The neurofibromatosis type 2 gene is inactivated in schwannomas.
Hum Mol Genet. 1994 Jan;3(1):147-51. doi: 10.1093/hmg/3.1.147.
6
Mutational analysis of the nf2 tumour suppressor gene in three subtypes of primary human malignant mesotheliomas.
Int J Oncol. 2003 May;22(5):1009-17.
7
DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.
JAMA. 1993 Nov 17;270(19):2316-20. doi: 10.1001/jama.270.19.2316.
8
Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers.
Hum Mol Genet. 1994 Apr;3(4):565-8. doi: 10.1093/hmg/3.4.565.
9
p27/Kip1 mutation found in breast cancer.
Cancer Res. 1996 May 15;56(10):2400-4.
10
Neurofibromatosis 2 gene in human colorectal cancer.
Cancer Genet Cytogenet. 1995 Oct 1;84(1):24-6. doi: 10.1016/0165-4608(95)00059-3.
引用本文的文献
1
Role of Mutation in the Development of Eleven Different Cancers.
Cancers (Basel). 2024 Dec 29;17(1):64. doi: 10.3390/cancers17010064.
2
Merlin deficiency alters the redox management program in breast cancer.
Mol Oncol. 2021 Apr;15(4):942-956. doi: 10.1002/1878-0261.12896. Epub 2021 Feb 1.
3
Loss of tumor suppressor Merlin results in aberrant activation of Wnt/β-catenin signaling in cancer.
Oncotarget. 2016 Apr 5;7(14):17991-8005. doi: 10.18632/oncotarget.7494.
4
Role of Merlin/NF2 inactivation in tumor biology.
Oncogene. 2016 Feb 4;35(5):537-48. doi: 10.1038/onc.2015.125. Epub 2015 Apr 20.
5
Merlin: the wizard requires protein stability to function as a tumor suppressor.
Biochim Biophys Acta. 2012 Dec;1826(2):400-6. doi: 10.1016/j.bbcan.2012.06.005. Epub 2012 Jun 30.
6
Loss of tumor suppressor Merlin in advanced breast cancer is due to post-translational regulation.
J Biol Chem. 2011 Nov 18;286(46):40376-85. doi: 10.1074/jbc.M111.250035. Epub 2011 Sep 30.
本文引用的文献
1
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.
Cell. 1993 Mar 12;72(5):791-800. doi: 10.1016/0092-8674(93)90406-g.
2
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.
Nature. 1993 Jun 10;363(6429):515-21. doi: 10.1038/363515a0.
3
Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas.
Cancer Res. 1994 Jan 1;54(1):45-7.
4
Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.
Nat Genet. 1994 Feb;6(2):185-92. doi: 10.1038/ng0294-185.
5
Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas.
Nat Genet. 1994 Feb;6(2):180-4. doi: 10.1038/ng0294-180.
6
The mouse homologue of the neurofibromatosis type 2 gene is highly conserved.
Hum Mol Genet. 1994 Jan;3(1):185-90. doi: 10.1093/hmg/3.1.185.
7
The neurofibromatosis type 2 gene is inactivated in schwannomas.
Hum Mol Genet. 1994 Jan;3(1):147-51. doi: 10.1093/hmg/3.1.147.
8
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.
Hum Mol Genet. 1994 May;3(5):813-6. doi: 10.1093/hmg/3.5.813.
9
Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers.
Hum Mol Genet. 1994 Apr;3(4):565-8. doi: 10.1093/hmg/3.4.565.
10
The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts.
Hum Mol Genet. 1994 Apr;3(4):559-64. doi: 10.1093/hmg/3.4.559.
Zotero 插件