BRCA1 16 years later: risk-associated BRCA1 mutations and their functional implications

Linger Rebecca J.; Kruk Patricia A.

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BRCA1 16 years later: risk-associated BRCA1 mutations and their functional implications

机译：16年后的BRCA1：与风险相关的BRCA1突变及其功能含义

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Mutations in the tumor suppressor breast cancer susceptibility gene 1 (BRCA1), an important player in the DNA damage response, apoptosis, cell cycle regulation and transcription, confer a significantly elevated lifetime risk for breast and ovarian cancer. Although the loss of wild-type BRCA1 function is an important mechanism by which mutations confer increased cancer risk, multiple studies suggest mutant BRCA1 proteins may confer functions independent of the loss of wild-type BRCA1 through dominant negative inhibition of remaining wild-type BRCA1, or through novel interactions and pathways. These functions impact various cellular processes and have the potential to significantly influence cancer initiation and progression. In this review, we discuss the functional classifications of risk-associated BRCA1 mutations and their molecular, cellular and clinical impact for mutation carriers.

机译：抑癌基因易感基因1（BRCA1）中的突变是DNA损伤反应，细胞凋亡，细胞周期调控和转录的重要参与者，大大增加了乳腺癌和卵巢癌的终生风险。尽管野生型BRCA1功能的丧失是突变赋予增加的癌症风险的重要机制，但多项研究表明，突变BRCA1蛋白可能通过对剩余野生型BRCA1的显性负抑制作用而赋予功能，而与野生型BRCA1的丧失无关，或通过新颖的互动和途径。这些功能影响各种细胞过程，并有可能显着影响癌症的发生和发展。在这篇综述中，我们讨论了风险相关的BRCA1突变的功能分类及其对突变携带者的分子，细胞和临床影响。

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《The FEBS journal》 |2010年第15期|共11页
作者
Linger Rebecca J.; Kruk Patricia A.;
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正文语种 eng
中图分类生物化学;
关键词
mutation.; BRCA1; risk; Internet resource.;

机译：突变;BRCA1;风险;互联网资源。;

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1. BRCA1 16 years later: risk-associated BRCA1 mutations and their functional implications [J] . Linger Rebecca J., Kruk Patricia A. The FEBS journal . 2010,第15期

机译：16年后的BRCA1：与风险相关的BRCA1突变及其功能含义
2. BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation [J] . Britta Stordal, Kirsten Timms, Angela Farrelly, Molecular oncology. . 2013,第3期

机译：在41个卵巢细胞系中进行BRCA1 / 2突变分析，发现只有一个功能有害的BRCA1突变
3. Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: Implications for genetic testing [J] . DeLeeneerK., CoeneI., CrombezB., Breast cancer research and treatment. . 2012,第1期

机译：散发性乳腺癌/卵巢癌患者中BRCA1 / 2突变的患病率和新诊断的新型BRCA1突变在诊断为晚期乳腺癌和卵巢癌的患者中的鉴定：基因检测的意义
4. Identification of potential long non-coding RNA biomarkers for breast cancer patients with somatic BRCA1 mutations from RNA-Seq datasets [C] . Jia-Hua Cai, Yu-Ching Chen, Hsueh-Ting Chu, IEEE International Conference on Bioinformatics and Bioengineering . 2018

机译：鉴定来自RNA-SEQ数据集的乳腺癌患者乳腺癌患者的潜在长期非编码RNA生物标志物
5. The identification of BRCA1 and BRCA2 mutation carriers using functional genomic assays. [D] . Michel, Claire S. 2008

机译：使用功能基因组分析鉴定BRCA1和BRCA2突变携带者。
6. BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation [O] . Britta Stordal, Kirsten Timms, Angela Farrelly, 2013

机译：在41个卵巢细胞系中进行BRCA1 / 2突变分析发现只有一个功能有害的BRCA1突变
7. Cancer risk management strategies and perceptions of unaffected women five years after predictive genetic testing for BRCA1/2 mutations : Risk perception 5 years after BRCA1/2 test result [O] . Julian-Reynier Claire, Mancini Julien, Mouret-Fourme Emmanuelle, 2011

机译：预测BRCA1 / 2突变的基因测试五年后未受影响女性的癌症风险管理策略和认知：BRCA1 / 2测试结果五年后的风险认知
8. Next Generation Education for Prevention: Defining Educational Needs, Attitudes, Concerns, Life Plans of 18 to 24 Year Old Daughters of BRCA1/2 Mutations Carriers [R] . Patenaude, A. F. 2011

机译：下一代预防教育：确定BRCa1 / 2突变携带者的18至24岁女儿的教育需求，态度，关注点和生活计划

BRCA1 16 years later: risk-associated BRCA1 mutations and their functional implications

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