快速浏览范可尼贫血和BRCA2/FANCD1

IF 0.4 Q4 MEDICINE, RESEARCH & EXPERIMENTAL
Salma M. AlDallal
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引用次数: 0

摘要

范可尼贫血(FA)是一种罕见的遗传性疾病,以多发性先天性畸形、进行性骨髓衰竭和易患癌症为特征。FA-D1亚型与乳腺癌基因FANCD1的双等位基因突变有关。这种突变的患者表现出严重的疾病表型。此外,除乳腺癌外,其他类型的癌症也与这种突变有关,如白血病、中枢神经系统实体瘤等。在这篇综述中,我们回顾了有关FA、FA基因及其生物学作用的文献,并特别讨论了FA- d1疾病亚型的现有信息。观察结果表明,BRCA2双等位基因丢失的时间可以建立特定的癌症谱。了解FANCD1/BRCA2突变对FA和癌症发病机制的影响可用于进一步了解FA- d1亚型的疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Quick glance at Fanconi anemia and BRCA2/FANCD1
Fanconi anemia (FA) is a rare genetic disorder characterized by multiple congenital malformations, progressive bone marrow failure, and susceptibility to cancer. The FA-D1 subtype is associated with biallelic mutations in the breast cancer 2 genes also known as FANCD1. Patients with this mutation display severe disease phenotype. In addition, different types of cancer other than breast cancer are associated with this mutation, such as leukemia, solid tumors of the central nervous system, etc. In this review, we have surveyed the literature on FA, FA genes, their biological roles, and specifically discussed the current information available on the FA-D1 disease subtype. The observations show that the timing of biallelic loss of BRCA2 can establish the specific cancer spectrum. The knowledge about effects of the FANCD1/BRCA2 mutation on FA and cancer pathogenesis can be used for further understanding the FA-D1 subtype of the disease.
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来源期刊
AIMS Medical Science
AIMS Medical Science MEDICINE, RESEARCH & EXPERIMENTAL-
自引率
14.30%
发文量
20
审稿时长
12 weeks
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