BRIP1，一种非BRCA1/2型乳腺癌发生过程中的潜在候选基因。

BRIP1, a potential candidate gene in development of non-BRCA1/2 breast cancer.

作者信息

Ouhtit Allal, Gupta Ishita, Shaikh Zoya

机构信息

Department of Biological and Environmental Sciences, College of Arts & Sciences, Qatar University, Qatar,

Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, PO Box 35, PC 123, Al Khoud, Sultanate of Oman.

出版信息

Front Biosci (Elite Ed). 2016 Jan 1;8(2):289-98. doi: 10.2741/E767.

DOI:10.2741/E767

PMID:26709662

Abstract

BRIP1 encodes a protein belonging to the RecQ DEAH helicase family. It interacts with BRCA1, and is involved in the repair of DNA damage and tumor suppression. Aberrations in BRIP1 have been mainly associated with the development of breast cancer (BC), ovarian cancer, and type J Fanconi anemia. Based on recent work, we hypothesize that BRIP1 might be the gene involved in the onset of BC in families that do not show BRACA1/2 mutations. This review will focus on the findings supporting this hypothesis, the mechanisms linking BRIP1 to the onset of BC, and the potential clinical relevance of its various inhibitors.

摘要

BRIP1编码一种属于RecQ DEAH解旋酶家族的蛋白质。它与BRCA1相互作用，并参与DNA损伤修复和肿瘤抑制。BRIP1的畸变主要与乳腺癌（BC）、卵巢癌和J型范可尼贫血的发生有关。基于最近的研究，我们推测BRIP1可能是在未显示BRACA1/2突变的家族性BC发病中起作用的基因。本综述将聚焦于支持这一假说的研究结果、将BRIP1与BC发病联系起来的机制以及其各种抑制剂的潜在临床相关性。