Suppr超能文献

一名携带BRCA1基因突变的患者体内针对着丝粒蛋白F的自身抗体。

Autoantibodies directed to centromere protein F in a patient with BRCA1 gene mutation.

作者信息

Moghaddas Fiona, Joshua Fredrick, Taylor Roberta, Fritzler Marvin J, Toh Ban Hock

机构信息

Australian Clinical Laboratories, Melbourne, Australia.

Department of Rheumatology, Prince of Wales Hospital, Sydney, Australia.

出版信息

BMC Res Notes. 2016 Feb 11;9:84. doi: 10.1186/s13104-016-1908-7.

Abstract

BACKGROUND

Autoantibodies directed to centromere protein F were first reported in 1993 and their association with malignancy has been well documented.

CASE

We present the case of a 48-year-old Caucasian female with a BRCA1 gene mutation associated with bilateral breast cancer. Antinuclear autoantibody immunofluorescence performed for workup of possible inflammatory arthropathy showed a high titre cell cycle related nuclear speckled pattern, with subsequent confirmation by addressable laser bead immunoassay of the target antigen as an immunodominant epitope at the C-terminus of centromere protein F.

CONCLUSION

Here we review the current literature on centromere protein F, its association with breast cancer and present the first case of this antibody being identified in a person with a BRCA1 gene mutation.

摘要

背景

针对着丝粒蛋白F的自身抗体于1993年首次被报道,其与恶性肿瘤的关联已有充分文献记载。

病例

我们报告一例48岁的白种女性,其携带与双侧乳腺癌相关的BRCA1基因突变。为排查可能的炎性关节病而进行的抗核自身抗体免疫荧光检测显示出高滴度的细胞周期相关核斑点模式,随后通过可寻址激光珠免疫测定法确认靶抗原为着丝粒蛋白F C端的一个免疫显性表位。

结论

在此,我们综述了关于着丝粒蛋白F的当前文献、其与乳腺癌的关联,并呈现了首例在携带BRCA1基因突变的个体中鉴定出该抗体的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ed4/4750191/defdb1926229/13104_2016_1908_Fig1_HTML.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验