RECQL: a new breast cancer susceptibility gene
RECQL: a new breast cancer susceptibility gene
复制标题
DOI：
10.1080/15384101.2015.1066539
复制
发表时间：
2015-11-17
期刊：
影响因子：
4.3
通讯作者：
Brosh, Robert M., Jr.
中科院分区：
文献类型：
--
作者：
Banerjee, Taraswi;Brosh, Robert M., Jr.
识别和表征BRCA 1/2阴性乳腺癌的新遗传风险因素与早期诊断和管理计划的制定高度相关。许多DNA修复基因的突变与基因组不稳定性以及乳腺癌和各种其他癌症的发展有关。两个研究小组的全外显子组测序工作导致在不同人群中发现RECQL中的多个乳腺癌易感性突变，RECQL是一种编码DNA解旋酶的基因，参与同源重组修复和对复制应激的反应。RECQL致病突变被鉴定为截短或破坏RECQL蛋白或在其解旋酶结构域中引入错义突变。RECQL突变可作为乳腺癌的有用生物标志物。用新型DNA修复抑制剂靶向RECQL相关肿瘤可能为抗癌治疗提供新的策略。
Identifying and characterizing novel genetic risk factors for BRCA1/2 negative breast cancers is highly relevant for early diagnosis and development of a management plan. Mutations in a number of DNA repair genes have been associated with genomic instability and development of breast and various other cancers. Whole exome sequencing efforts by 2 groups have led to the discovery in distinct populations of multiple breast cancer susceptibility mutations in RECQL, a gene that encodes a DNA helicase involved in homologous recombination repair and response to replication stress. RECQL pathogenic mutations were identified that truncated or disrupted the RECQL protein or introduced missense mutations in its helicase domain. RECQL mutations may serve as a useful biomarker for breast cancer. Targeting RECQL associated tumors with novel DNA repair inhibitors may provide a new strategy for anti-cancer therapy.