نتایج جستجو برای: brca1 protein

تعداد نتایج: 1240933  

2017
Abeer M Mahmoud Virgilia Macias Umaima Al-Alem Ryan J Deaton Andre Kadjaksy-Balla Peter H Gann Garth H Rauscher

PURPOSE Mutations in BRCA1 are associated with familial as well as sporadic aggressive subtypes of breast cancer, but less is known about whether BRCA1 expression or subcellular localization contributes to progression in population-based settings. METHODS We examined BRCA1 expression and subcellular localization in invasive breast cancer tissues from an ethnically diverse sample of 286 patien...

Journal: :Nucleic acids research 2000
J C Rice B W Futscher

BRCA1 expression is repressed by aberrant cytosine methylation in sporadic breast cancer. We hypothesized that aberrant cytosine methylation of the BRCA1 promoter was associated with the transcriptionally repressive effects of histone hypoacetylation and chromatin condensation. To address this question, we developed an in vitro model of study using normal cells and sporadic breast cancer cells ...

2017
Xiaowen Zhang Huai-Chin Chiang Yao Wang Chi Zhang Sabrina Smith Xiayan Zhao Sreejith J Nair Joel Michalek Ismail Jatoi Meeghan Lautner Boyce Oliver Howard Wang Anna Petit Teresa Soler Joan Brunet Francesca Mateo Miguel Angel Pujana Elizabeth Poggi Krysta Chaldekas Claudine Isaacs Beth N Peshkin Oscar Ochoa Frederic Chedin Constantine Theoharis Lu-Zhe Sun Tyler J Curiel Richard Elledge Victor X Jin Yanfen Hu Rong Li

Most BRCA1-associated breast tumours are basal-like yet originate from luminal progenitors. BRCA1 is best known for its functions in double-strand break repair and resolution of DNA replication stress. However, it is unclear whether loss of these ubiquitously important functions fully explains the cell lineage-specific tumorigenesis. In vitro studies implicate BRCA1 in elimination of R-loops, D...

Journal: :Molecular and cellular biology 2003
Sanjay Thakur Tatsuya Nakamura George Calin Andrea Russo Joseph F Tamburrino Masayoshi Shimizu Gustavo Baldassarre Sabrina Battista Alfredo Fusco Richard P Wassell Garret Dubois Hansjuerg Alder Carlo M Croce

Since the majority of high-grade breast cancers express reduced levels of BRCA1 mRNA, we investigated the factors regulating BRCA1 transcription. Factors with specific affinity for the previously identified positive regulatory region (PRR) in the BRCA1 promoter were purified from whole-cell extracts. Identified proteins included replication protein A and a series of related factors with affinit...

2011
Janelle L Harris Kum Kum Khanna

mutations in BRCA1 increase the risk of breast and ovarian cancer, but the specific pathways driving breast and ovarian cancer development in BRCA1 mutants are currently unclear [1]. Several studies have demonstrated that BRCA1 is required for cellular responses to DNA double strand breaks (DSBs) and homologous recombination (HR), although its exact role in these processes is unclear. BRCA1 con...

Journal: :Human molecular genetics 2011
David G Cox Jacques Simard Daniel Sinnett Yosr Hamdi Penny Soucy Manon Ouimet Laure Barjhoux Carole Verny-Pierre Lesley McGuffog Sue Healey Csilla Szabo Mark H Greene Phuong L Mai Irene L Andrulis Mads Thomassen Anne-Marie Gerdes Maria A Caligo Eitan Friedman Yael Laitman Bella Kaufman Shani S Paluch Åke Borg Per Karlsson Marie Stenmark Askmalm Gisela Barbany Bustinza Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Javier Benítez Ute Hamann Matti A Rookus Ans M W van den Ouweland Margreet G E M Ausems Cora M Aalfs Christi J van Asperen Peter Devilee Hans J J P Gille Susan Peock Debra Frost D Gareth Evans Ros Eeles Louise Izatt Julian Adlard Joan Paterson Jacqueline Eason Andrew K Godwin Marie-Alice Remon Virginie Moncoutier Marion Gauthier-Villars Christine Lasset Sophie Giraud Agnès Hardouin Pascaline Berthet Hagay Sobol François Eisinger Brigitte Bressac de Paillerets Olivier Caron Capucine Delnatte David Goldgar Alex Miron Hilmi Ozcelik Saundra Buys Melissa C Southey Mary Beth Terry Christian F Singer Anne-Catharina Dressler Muy-Kheng Tea Thomas V O Hansen Oskar Johannsson Marion Piedmonte Gustavo C Rodriguez Jack B Basil Stephanie Blank Amanda E Toland Marco Montagna Claudine Isaacs Ignacio Blanco Simon A Gayther Kirsten B Moysich Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Christian Sutter Dorothea Gadzicki Britta Fiebig Trinidad Caldes Rachel Laframboise Heli Nevanlinna Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Paolo Peterlongo Siranoush Manoukian Loris Bernard Paolo Radice Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Dominique Stoppa-Lyonnet Sylvie Mazoyer Olga M Sinilnikova

Mutations in the BRCA1 gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA1 protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that a...

Journal: :Cancer research 2006
Fons Elstrodt Antoinette Hollestelle Jord H A Nagel Michael Gorin Marijke Wasielewski Ans van den Ouweland Sofia D Merajver Stephen P Ethier Mieke Schutte

Germ line mutations of the BRCA1 gene confer a high risk of breast cancer and ovarian cancer to female mutation carriers. The BRCA1 protein is involved in the regulation of DNA repair. How specific tumor-associated mutations affect the molecular function of BRCA1, however, awaits further elucidation. Cell lines that harbor BRCA1 gene mutations are invaluable tools for such functional studies. U...

2017
Yunhui Li Kuntian Luo Yujiao Yin Chenming Wu Min Deng Lei Li Yuping Chen Somaira Nowsheen Zhenkun Lou Jian Yuan

BRCA1 regulates multiple cellular pathways that maintain genomic stability including cell cycle checkpoints, DNA repair, protein ubiquitination, chromatin remodelling, transcriptional regulation and apoptosis. Receptor-associated protein 80 (RAP80) helps recruit BRCA1 to double-strand breaks (DSBs) through the scaffold protein CCDC98 (Abraxas) and facilitates DNA damage response (DDR). However,...

Journal: :The Journal of biological chemistry 2004
Xingzhi Xu Juhie Lee David F Stern

Microcephalin (MCPH1) is the first gene identified among at least six loci that contribute to the autosomal recessive disease, primary microcephaly. MCPH1, like NFBD1/MDC1, 53BP1, and BRCA1, encodes a protein with twin carboxyl-terminal BRCT domains (PTCB). Here, we report that Mcph1 forms ionizing radiation-induced foci. Down-regulation of Mcph1, like other PTCBs, by siRNA, impairs ionizing ra...

Journal: :Genes & development 2000
R S Tibbetts D Cortez K M Brumbaugh R Scully D Livingston S J Elledge R T Abraham

The BRCA1 gene encodes a tumor suppressor that is mutated in 50% of familial breast cancers. The BRCA1 protein has been implicated in the DNA damage response, as DNA damage induces the phosphorylation of BRCA1 and causes its recruitment into nuclear foci that contain DNA repair proteins. The ataxia-telangiectasia-mutated (ATM) gene product controls overall BRCA1 phosphorylation in response to g...

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