在范可尼贫血D1型中与急性髓系白血病相关的遗传性FANCD1/BRCA2外显子7剪接突变在散发性儿童白血病中未被发现。 - Suppr | 超能文献

Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.

作者信息

Barber Lisa M, Barlow Rosemary A, Meyer Stefan, White Daniel J, Will Andrew M, Eden Tim O B, Taylor G Malcolm

出版信息

Br J Haematol. 2005 Sep;130(5):796-7. doi: 10.1111/j.1365-2141.2005.05677.x.

DOI:10.1111/j.1365-2141.2005.05677.x

Abstract

摘要

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1

Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.在范可尼贫血D1型中与急性髓系白血病相关的遗传性FANCD1/BRCA2外显子7剪接突变在散发性儿童白血病中未被发现。

Br J Haematol. 2005 Sep;130(5):796-7. doi: 10.1111/j.1365-2141.2005.05677.x.

2

No evidence of significant silencing of Fanconi genes FANCF and FANCB or Nijmegen breakage syndrome gene NBS1 by DNA hyper-methylation in sporadic childhood leukaemia.

Br J Haematol. 2006 Jul;134(1):61-3. doi: 10.1111/j.1365-2141.2006.06107.x.

3

A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.一名患有严重范可尼贫血且存在双等位基因FANCD1/BRCA2突变的2岁男孩的交联剂敏感型髓系白血病细胞系。

Genes Chromosomes Cancer. 2005 Apr;42(4):404-15. doi: 10.1002/gcc.20153.

4

Spectrum and significance of variants and mutations in the Fanconi anaemia group G gene in children with sporadic acute myeloid leukaemia.散发性急性髓系白血病患儿中范可尼贫血G组基因变异和突变的谱系及意义

Br J Haematol. 2006 May;133(3):284-92. doi: 10.1111/j.1365-2141.2006.05985.x.

5

Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia.儿童急性髓系白血病中范可尼贫血C组（FANCC）基因的体质序列变异

Br J Haematol. 2003 Apr;121(1):57-62. doi: 10.1046/j.1365-2141.2003.04234.x.

6

Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.范可尼贫血基因突变与散发性肾母细胞瘤无关。

Pediatr Blood Cancer. 2010 Oct;55(4):742-4. doi: 10.1002/pbc.22588.

7

The Fanconi road to cancer.范科尼贫血通往癌症之路。

Genes Dev. 2003 Aug 15;17(16):1933-6. doi: 10.1101/gad.1128303. Epub 2003 Jul 31.

8

Fanconi anaemia and leukaemia - clinical and molecular aspects.范可尼贫血与白血病——临床及分子层面

Br J Haematol. 2004 Jul;126(2):176-91. doi: 10.1111/j.1365-2141.2004.05023.x.

9

The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.双等位基因 FANCD1/BRCA2 突变导致的范可尼贫血患儿的临床表型。

Pediatr Blood Cancer. 2012 Mar;58(3):462-5. doi: 10.1002/pbc.23168. Epub 2011 May 5.

10

Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2.范可尼贫血互补组FA-D1/BRCA2细胞的细胞特征分析

Mutat Res. 2006 Oct 10;601(1-2):191-201. doi: 10.1016/j.mrfmmm.2006.07.003. Epub 2006 Aug 21.

引用本文的文献

1

Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing.临床种系基因检测中BRCA1和BRCA2致病变异的外显率降低

NPJ Precis Oncol. 2024 Nov 2;8(1):247. doi: 10.1038/s41698-024-00741-4.

2

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.利用当前分子遗传学方法进行扩展分析的重要性——以 228 例遗传性乳腺癌和卵巢癌综合征患者队列为例。

Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483.

3

Haematopoietic cell transplantation for acute leukaemia and advanced myelodysplastic syndrome in Fanconi anaemia.范可尼贫血患者的急性白血病和高级骨髓增生异常综合征的造血细胞移植。

Br J Haematol. 2014 Feb;164(3):384-95. doi: 10.1111/bjh.12634. Epub 2013 Oct 30.