1jnx › Citations

Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1.

Williams RS, Green R, Glover JN
Nat Struct Biol 8 838-42 (2001)
Cited: 165 times
EuropePMC logo PMID: 11573086

Abstract

The C-terminal BRCT region of BRCA1 is essential for its DNA repair, transcriptional regulation and tumor suppressor functions. Here we determine the crystal structure of the BRCT domain of human BRCA1 at 2.5 A resolution. The domain contains two BRCT repeats that adopt similar structures and are packed together in a head-to-tail arrangement. Cancer-causing missense mutations occur at the interface between the two repeats and destabilize the structure. The manner by which the two BRCT repeats interact in BRCA1 may represent a general mode of interaction between homologous domains within proteins that interact to regulate the cellular response to DNA damage. The structure provides a basis to predict the structural consequences of uncharacterized BRCA1 mutations.

Reviews - 1jnx mentioned but not cited (5)

  1. BRCT domains: easy as one, two, three. Leung CC, Glover JN. Cell Cycle 10 2461-2470 (2011)
  2. A guide for functional analysis of BRCA1 variants of uncertain significance. Millot GA, Carvalho MA, Caputo SM, Vreeswijk MP, Brown MA, Webb M, Rouleau E, Neuhausen SL, Hansen Tv, Galli A, Brandão RD, Blok MJ, Velkova A, Couch FJ, Monteiro AN, ENIGMA Consortium Functional Assay Working Group. Hum Mutat 33 1526-1537 (2012)
  3. Fanconi anemia pathway as a prospective target for cancer intervention. Liu W, Palovcak A, Li F, Zafar A, Yuan F, Zhang Y. Cell Biosci 10 39 (2020)
  4. Phosphopeptide interactions with BRCA1 BRCT domains: More than just a motif. Wu Q, Jubb H, Blundell TL. Prog Biophys Mol Biol 117 143-148 (2015)
  5. Analysis and Interpretation of the Impact of Missense Variants in Cancer. Petrosino M, Novak L, Pasquo A, Chiaraluce R, Turina P, Capriotti E, Consalvi V. Int J Mol Sci 22 5416 (2021)

Articles - 1jnx mentioned but not cited (40)

  1. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A. J Med Genet 43 295-305 (2006)
  2. Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains. Botuyan MV, Nominé Y, Yu X, Juranic N, Macura S, Chen J, Mer G. Structure 12 1137-1146 (2004)
  3. High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. Vasickova P, Machackova E, Lukesova M, Damborsky J, Horky O, Pavlu H, Kuklova J, Kosinova V, Navratilova M, Foretova L. BMC Med Genet 8 32 (2007)
  4. Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation. Sinha S, Wang SM. Comput Struct Biotechnol J 18 723-736 (2020)
  5. A Dbf4p BRCA1 C-terminal-like domain required for the response to replication fork arrest in budding yeast. Gabrielse C, Miller CT, McConnell KH, DeWard A, Fox CA, Weinreich M. Genetics 173 541-555 (2006)
  6. Toward classification of BRCA1 missense variants using a biophysical approach. Rowling PJ, Cook R, Itzhaki LS. J Biol Chem 285 20080-20087 (2010)
  7. Structural insights into recognition of MDC1 by TopBP1 in DNA replication checkpoint control. Leung CC, Sun L, Gong Z, Burkat M, Edwards R, Assmus M, Chen J, Glover JN. Structure 21 1450-1459 (2013)
  8. The BARD1 C-terminal domain structure and interactions with polyadenylation factor CstF-50. Edwards RA, Lee MS, Tsutakawa SE, Williams RS, Nazeer I, Kleiman FE, Tainer JA, Glover JN. Biochemistry 47 11446-11456 (2008)
  9. Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. Fernandes VC, Golubeva VA, Di Pietro G, Shields C, Amankwah K, Nepomuceno TC, de Gregoriis G, Abreu RBV, Harro C, Gomes TT, Silva RF, Suarez-Kurtz G, Couch FJ, Iversen ES, Monteiro ANA, Carvalho MA. J Biol Chem 294 5980-5992 (2019)
  10. Peptide library approach to uncover phosphomimetic inhibitors of the BRCA1 C-terminal domain. White ER, Sun L, Ma Z, Beckta JM, Danzig BA, Hacker DE, Huie M, Williams DC, Edwards RA, Valerie K, Glover JN, Hartman MC. ACS Chem Biol 10 1198-1208 (2015)
  11. Saccharomyces cerevisiae Dbf4 has unique fold necessary for interaction with Rad53 kinase. Matthews LA, Jones DR, Prasad AA, Duncker BP, Guarné A. J Biol Chem 287 2378-2387 (2012)
  12. Molecular Interaction Studies and Phytochemical Characterization of Mentha pulegium L. Constituents with Multiple Biological Utilities as Antioxidant, Antimicrobial, Anticancer and Anti-Hemolytic Agents. Al-Rajhi AMH, Qanash H, Almuhayawi MS, Al Jaouni SK, Bakri MM, Ganash M, Salama HM, Selim S, Abdelghany TM. Molecules 27 4824 (2022)
  13. Analysis of the "thermodynamic information content" of a Homo sapiens structural database reveals hierarchical thermodynamic organization. Larson SA, Hilser VJ. Protein Sci 13 1787-1801 (2004)
  14. Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms. Pettigrew C, Wayte N, Lovelock PK, Tavtigian SV, Chenevix-Trench G, Spurdle AB, Brown MA. Breast Cancer Res 7 R929-39 (2005)
  15. Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del. De Nicolo A, Parisini E, Zhong Q, Dalla Palma M, Stoeckert KA, Domchek SM, Nathanson KL, Caligo MA, Vidal M, Cusick ME, Garber JE. Cancer Res 69 7030-7037 (2009)
  16. Tandem BRCT Domains: DNA's Praetorian Guard. Mesquita RD, Woods NT, Seabra-Junior ES, Monteiro AN. Genes Cancer 1 1140-1146 (2010)
  17. Anticancer, Anticoagulant, Antioxidant and Antimicrobial Activities of Thevetia peruviana Latex with Molecular Docking of Antimicrobial and Anticancer Activities. Al-Rajhi AMH, Yahya R, Abdelghany TM, Fareid MA, Mohamed AM, Amin BH, Masrahi AS. Molecules 27 3165 (2022)
  18. "Similarity trap" in protein-protein interactions could be carcinogenic: simulations of p53 core domain complexed with 53BP1 and BRCA1 BRCT domains. Liu J, Pan Y, Ma B, Nussinov R. Structure 14 1811-1821 (2006)
  19. A Molecular Toolkit to Visualize Native Protein Assemblies in the Context of Human Disease. Gilmore BL, Winton CE, Demmert AC, Tanner JR, Bowman S, Karageorge V, Patel K, Sheng Z, Kelly DF. Sci Rep 5 14440 (2015)
  20. Structural analysis of BRCA1 reveals modification hotspot. Liang Y, Dearnaley WJ, Varano AC, Winton CE, Gilmore BL, Alden NA, Sheng Z, Kelly DF. Sci Adv 3 e1701386 (2017)
  21. A pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation. Richards MW, Leung JW, Roe SM, Li K, Chen J, Bayliss R. J Mol Biol 395 908-915 (2010)
  22. Targeting the lysosome by an aminomethylated Riccardin D triggers DNA damage through cathepsin B-mediated degradation of BRCA1. Wang Y, Niu H, Hu Z, Zhu M, Wang L, Han L, Qian L, Tian K, Yuan H, Lou H. J Cell Mol Med 23 1798-1812 (2019)
  23. A microchip platform for structural oncology applications. Winton CE, Gilmore BL, Demmert AC, Karageorge V, Sheng Z, Kelly DF. NPJ Breast Cancer 2 16016 (2016)
  24. In silico analysis for determining the deleterious nonsynonymous single nucleotide polymorphisms of BRCA genes. Yadegari F, Majidzadeh K. Mol Biol Res Commun 8 141-150 (2019)
  25. Targeting Phosphopeptide Recognition by the Human BRCA1 Tandem BRCT Domain to Interrupt BRCA1-Dependent Signaling. Periasamy J, Kurdekar V, Jasti S, Nijaguna MB, Boggaram S, Hurakadli MA, Raina D, Kurup LM, Chintha C, Manjunath K, Goyal A, Sadasivam G, Bharatham K, Padigaru M, Potluri V, Venkitaraman AR. Cell Chem Biol 25 677-690.e12 (2018)
  26. Chemical Composition and the Anticancer, Antimicrobial, and Antioxidant Properties of Acacia Honey from the Hail Region: The in vitro and in silico Investigation. Hamadou WS, Bouali N, Badraoui R, Hadj Lajimi R, Hamdi A, Alreshidi M, Patel M, Adnan M, Siddiqui AJ, Noumi E, Rao Pasupuleti V, Snoussi M. Evid Based Complement Alternat Med 2022 1518511 (2022)
  27. Thymus musilii Velen. Methanolic Extract: In Vitro and In Silico Screening of Its Antimicrobial, Antioxidant, Anti-Quorum Sensing, Antibiofilm, and Anticancer Activities. Noumi E, Ahmad I, Bouali N, Patel H, Ghannay S, ALrashidi AA, Abdulhakeem MA, Patel M, Ceylan O, Badraoui R, Mousa Elayyan AE, Adnan M, Kadri A, Snoussi M. Life (Basel) 13 62 (2022)
  28. Fermentative Production of Pyranone Derivate I from Marine Vibrio sp. SKMARSP9: Isolation, Characterization and Bioactivity Evaluation. Shiva Krishna P, Sudheer Kumar B, Raju P, Murty MS, Prabhakar Rao T, Singara Charya MA, Prakasham RS. Indian J Microbiol 55 292-301 (2015)
  29. GC-MS Analysis, Molecular Docking and Pharmacokinetic Properties of Phytocompounds from Solanum torvum Unripe Fruits and Its Effect on Breast Cancer Target Protein. Saravanan R, Raja K, Shanthi D. Appl Biochem Biotechnol 194 529-555 (2022)
  30. Predicting pathogenicity of missense variants with weakly supervised regression. Cao Y, Sun Y, Karimi M, Chen H, Moronfoye O, Shen Y. Hum Mutat 40 1579-1592 (2019)
  31. A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases. Magraner-Pardo L, Laskowski RA, Pons T, Thornton JM. Sci Rep 11 14268 (2021)
  32. Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population. Qin Z, Li J, Tam B, Sinha S, Zhao B, Bhaskaran SP, Huang T, Wu X, Chian JS, Guo M, Kou SH, Lei H, Zhang L, Wang X, Lagniton PNP, Xiao F, Jiang X, Wang SM. Int J Cancer 152 1159-1173 (2023)
  33. Anti-quorum sensing activity in Pseudomonas aeruginosa PA01 of benzimidazolium salts: electronic, spectral and structural investigations as theoretical approach. Önem E, Tüzün B, Akkoç S. J Biomol Struct Dyn 40 6845-6856 (2022)
  34. Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay. Nepomuceno TC, Dos Santos APP, Fernandes VC, Elias ABR, Gomes TT, Suarez-Kurtz G, Iversen ES, Couch FJ, Monteiro ANA, Carvalho MA. Sci Rep 12 16203 (2022)
  35. Preparation of Tunable Microchips to Visualize Native Protein Complexes for Single-Particle Electron Microscopy. Gilmore BL, Varano AC, Dearnaley W, Liang Y, Marcinkowski BC, Dukes MJ, Kelly DF. Methods Mol Biol 1764 45-58 (2018)
  36. Dimethylaminoethyl Methacrylate/Diethylene Glycol Dimethacrylate Grafted onto Folate-Esterified Bagasse Xylan/Andrographolide Composite Nanoderivative: Synthesis, Molecular Docking and Biological Activity. Su Y, Zhang S, Li H, Zhao B, Tian K, Zou Z. Molecules 27 5970 (2022)
  37. Polymer complexes. LXXV. Characterization of quinoline polymer complexes as potential bio-active and anti-corrosion agents. Abou-Dobara MI, Omar NF, Diab MA, El-Sonbati AZ, Morgan SM, Salem OL, Eldesoky AM. Mater Sci Eng C Mater Biol Appl 103 109727 (2019)
  38. BRCA1 frameshift variants leading to extended incorrect protein C-termini. Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA. HGG Adv 100240 (2023)
  39. Design, spectral, molecular modeling, antimitotic, analytical and mechanism studies of phenyl isothiocyanate Girard's T derived metal complexes. Akl MA, El Mahdy NA, Elbadrawy Z, El-Zeny AS, Mostafa MM. BMC Chem 17 153 (2023)
  40. Tunable substrates improve imaging of viruses and cancer proteins. Winton CE, Gilmore BL, Tanner JR, Varano AC, Sheng Z, Kelly DF. Micros Today 25 22-27 (2017)


Reviews citing this publication (26)

  1. Molecular views of recombination proteins and their control. West SC. Nat Rev Mol Cell Biol 4 435-445 (2003)
  2. Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis. Moynahan ME, Jasin M. Nat Rev Mol Cell Biol 11 196-207 (2010)
  3. Showing your ID: intrinsic disorder as an ID for recognition, regulation and cell signaling. Uversky VN, Oldfield CJ, Dunker AK. J Mol Recognit 18 343-384 (2005)
  4. Mre11-Rad50-Nbs1 is a keystone complex connecting DNA repair machinery, double-strand break signaling, and the chromatin template. Williams RS, Williams JS, Tainer JA. Biochem Cell Biol 85 509-520 (2007)
  5. Homologous repair of DNA damage and tumorigenesis: the BRCA connection. Jasin M. Oncogene 21 8981-8993 (2002)
  6. Interactions between BRCT repeats and phosphoproteins: tangled up in two. Glover JN, Williams RS, Lee MS. Trends Biochem Sci 29 579-585 (2004)
  7. BRCA1 gene in breast cancer. Rosen EM, Fan S, Pestell RG, Goldberg ID. J Cell Physiol 196 19-41 (2003)
  8. TopBP1: A BRCT-scaffold protein functioning in multiple cellular pathways. Wardlaw CP, Carr AM, Oliver AW. DNA Repair (Amst) 22 165-174 (2014)
  9. BRCA1, PARP, and 53BP1: conditional synthetic lethality and synthetic viability. Aly A, Ganesan S. J Mol Cell Biol 3 66-74 (2011)
  10. Role of BRCA Mutations in the Modulation of Response to Platinum Therapy. Mylavarapu S, Das A, Roy M. Front Oncol 8 16 (2018)
  11. Recognition and repair of chemically heterogeneous structures at DNA ends. Andres SN, Schellenberg MJ, Wallace BD, Tumbale P, Williams RS. Environ Mol Mutagen 56 1-21 (2015)
  12. Structural basis of homologous recombination. Sun Y, McCorvie TJ, Yates LA, Zhang X. Cell Mol Life Sci 77 3-18 (2020)
  13. Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes. Pesaran T, Karam R, Huether R, Li S, Farber-Katz S, Chamberlin A, Chong H, LaDuca H, Elliott A. Int J Breast Cancer 2016 2469523 (2016)
  14. BRCA gene structure and function in tumor suppression: a repair-centric perspective. Murphy CG, Moynahan ME. Cancer J 16 39-47 (2010)
  15. Recognition of DNA double strand breaks by the BRCA1 tumor suppressor network. Greenberg RA. Chromosoma 117 305-317 (2008)
  16. Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain. Glover JN. Fam Cancer 5 89-93 (2006)
  17. BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer. Tammaro C, Raponi M, Wilson DI, Baralle D. Biochem Soc Trans 40 768-772 (2012)
  18. Distinct implications of different BRCA mutations: efficacy of cytotoxic chemotherapy, PARP inhibition and clinical outcome in ovarian cancer. Hollis RL, Churchman M, Gourley C. Onco Targets Ther 10 2539-2551 (2017)
  19. Structural basis for phosphorylation-dependent signaling in the DNA-damage response. Williams RS, Bernstein N, Lee MS, Rakovszky ML, Cui D, Green R, Weinfeld M, Glover JN. Biochem Cell Biol 83 721-727 (2005)
  20. Cancer predisposing mutations in BRCT domains. di Masi A, Gullotta F, Cappadonna V, Leboffe L, Ascenzi P. IUBMB Life 63 503-512 (2011)
  21. Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition. Santana Dos Santos E, Lallemand F, Burke L, Stoppa-Lyonnet D, Brown M, Caputo SM, Rouleau E. Cancers (Basel) 10 E453 (2018)
  22. The role of structural disorder in cell cycle regulation, related clinical proteomics, disease development and drug targeting. Tantos A, Kalmar L, Tompa P. Expert Rev Proteomics 12 221-233 (2015)
  23. Highlight: BRCA1 and BRCA2 proteins in breast cancer. Daniel DC. Microsc Res Tech 59 68-83 (2002)
  24. Lack of association of the TP53BP1 Glu353Asp polymorphism with risk of cancer: a systematic review and meta-analysis. Liu L, Jiao J, Wang Y, Zhang D, Wu J, Huang D. PLoS One 9 e90931 (2014)
  25. BRCT Domains: Structure, Functions, and Implications in Disease-New Therapeutic Targets for Innovative Drug Discovery against Infections. Peña-Guerrero J, Fernández-Rubio C, García-Sosa AT, Nguewa PA. Pharmaceutics 15 1839 (2023)
  26. Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond. Rein HL, Bernstein KA. DNA Repair (Amst) 130 103563 (2023)

Articles citing this publication (94)

  1. MDC1 directly binds phosphorylated histone H2AX to regulate cellular responses to DNA double-strand breaks. Stucki M, Clapperton JA, Mohammad D, Yaffe MB, Smerdon SJ, Jackson SP. Cell 123 1213-1226 (2005)
  2. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL, CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomäki K, van der Hout AH, Hogervorst FB, Verhoef S, Collée JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Gómez Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Złowocka-Perłowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I. JAMA 313 1347-1361 (2015)
  3. Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA double-strand break processing and repair. Williams RS, Dodson GE, Limbo O, Yamada Y, Williams JS, Guenther G, Classen S, Glover JN, Iwasaki H, Russell P, Tainer JA. Cell 139 87-99 (2009)
  4. Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. Williams RS, Lee MS, Hau DD, Glover JN. Nat Struct Mol Biol 11 519-525 (2004)
  5. Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. Clapperton JA, Manke IA, Lowery DM, Ho T, Haire LF, Yaffe MB, Smerdon SJ. Nat Struct Mol Biol 11 512-518 (2004)
  6. Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains. Rodriguez M, Yu X, Chen J, Songyang Z. J Biol Chem 278 52914-52918 (2003)
  7. A subset of ATM- and ATR-dependent phosphorylation events requires the BRCA1 protein. Foray N, Marot D, Gabriel A, Randrianarison V, Carr AM, Perricaudet M, Ashworth A, Jeggo P. EMBO J 22 2860-2871 (2003)
  8. Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure. Joo WS, Jeffrey PD, Cantor SB, Finnin MS, Livingston DM, Pavletich NP. Genes Dev 16 583-593 (2002)
  9. Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. Shiozaki EN, Gu L, Yan N, Shi Y. Mol Cell 14 405-412 (2004)
  10. Crystal structure of human 53BP1 BRCT domains bound to p53 tumour suppressor. Derbyshire DJ, Basu BP, Serpell LC, Joo WS, Date T, Iwabuchi K, Doherty AJ. EMBO J 21 3863-3872 (2002)
  11. Characterization of segments from the central region of BRCA1: an intrinsically disordered scaffold for multiple protein-protein and protein-DNA interactions? Mark WY, Liao JC, Lu Y, Ayed A, Laister R, Szymczyna B, Chakrabartty A, Arrowsmith CH. J Mol Biol 345 275-287 (2005)
  12. Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, Yeung T, Foo D, Hau DD, Hui B, Monteiro AN, Glover JN. Cancer Res 70 4880-4890 (2010)
  13. Structure and mechanism of RNA polymerase II CTD phosphatases. Kamenski T, Heilmeier S, Meinhart A, Cramer P. Mol Cell 15 399-407 (2004)
  14. Structure-Function Of The Tumor Suppressor BRCA1. Clark SL, Rodriguez AM, Snyder RR, Hankins GD, Boehning D. Comput Struct Biotechnol J 1 e201204005 (2012)
  15. Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. Williams RS, Chasman DI, Hau DD, Hui B, Lau AY, Glover JN. J Biol Chem 278 53007-53016 (2003)
  16. Activation of BRCA1/BRCA2-associated helicase BACH1 is required for timely progression through S phase. Kumaraswamy E, Shiekhattar R. Mol Cell Biol 27 6733-6741 (2007)
  17. Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain. Rodriguez JA, Au WW, Henderson BR. Exp Cell Res 293 14-21 (2004)
  18. Classification of BRCA1 missense variants of unknown clinical significance. Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, kConFab, Caldes T, de la Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN. J Med Genet 42 138-146 (2005)
  19. Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. Pavlicek A, Noskov VN, Kouprina N, Barrett JC, Jurka J, Larionov V. Hum Mol Genet 13 2737-2751 (2004)
  20. Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. Williams RS, Glover JN. J Biol Chem 278 2630-2635 (2003)
  21. gammaH2A binds Brc1 to maintain genome integrity during S-phase. Williams JS, Williams RS, Dovey CL, Guenther G, Tainer JA, Russell P. EMBO J 29 1136-1148 (2010)
  22. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C, kConFab, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM, Dutch Belgium UV Consortium, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A, German Consortium of Hereditary Breast and Ovarian Cancer, Caputo S, Sinilnikova OM, Lidereau R, French COVAR group collaborators, Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE, ENIGMA Consortium. J Med Genet 49 525-532 (2012)
  23. The Tudor tandem of 53BP1: a new structural motif involved in DNA and RG-rich peptide binding. Charier G, Couprie J, Alpha-Bazin B, Meyer V, Quéméneur E, Guérois R, Callebaut I, Gilquin B, Zinn-Justin S. Structure 12 1551-1562 (2004)
  24. Characterization of Arabidopsis thaliana ortholog of the human breast cancer susceptibility gene 1: AtBRCA1, strongly induced by gamma rays. Lafarge S, Montané MH. Nucleic Acids Res 31 1148-1155 (2003)
  25. BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains. Magnard C, Bachelier R, Vincent A, Jaquinod M, Kieffer S, Lenoir GM, Venezia ND. Oncogene 21 6729-6739 (2002)
  26. Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Béroud C, Lidereau R, French BRCA GGC Consortium. Nucleic Acids Res 40 D992-1002 (2012)
  27. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE, kConFab Investigators. J Clin Oncol 26 1657-1663 (2008)
  28. Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations. Chang S, Biswas K, Martin BK, Stauffer S, Sharan SK. J Clin Invest 119 3160-3171 (2009)
  29. Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE. PLoS One 9 e94554 (2014)
  30. BARD1 induces apoptosis by catalysing phosphorylation of p53 by DNA-damage response kinase. Feki A, Jefford CE, Berardi P, Wu JY, Cartier L, Krause KH, Irminger-Finger I. Oncogene 24 3726-3736 (2005)
  31. The BRCA1 RING and BRCT domains cooperate in targeting BRCA1 to ionizing radiation-induced nuclear foci. Au WW, Henderson BR. J Biol Chem 280 6993-7001 (2005)
  32. Constitutive association of BRCA1 and c-Abl and its ATM-dependent disruption after irradiation. Foray N, Marot D, Randrianarison V, Venezia ND, Picard D, Perricaudet M, Favaudon V, Jeggo P. Mol Cell Biol 22 4020-4032 (2002)
  33. NFBD1, a novel nuclear protein with signature motifs of FHA and BRCT, and an internal 41-amino acid repeat sequence, is an early participant in DNA damage response. Shang YL, Bodero AJ, Chen PL. J Biol Chem 278 6323-6329 (2003)
  34. BRCA1 interacts with FHL2 and enhances FHL2 transactivation function. Yan J, Zhu J, Zhong H, Lu Q, Huang C, Ye Q. FEBS Lett 553 183-189 (2003)
  35. Structure of BRCA1-BRCT/Abraxas Complex Reveals Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites. Wu Q, Paul A, Su D, Mehmood S, Foo TK, Ochi T, Bunting EL, Xia B, Robinson CV, Wang B, Blundell TL. Mol Cell 61 434-448 (2016)
  36. Comparison of the structures and peptide binding specificities of the BRCT domains of MDC1 and BRCA1. Campbell SJ, Edwards RA, Glover JN. Structure 18 167-176 (2010)
  37. Specificity of protein interactions mediated by BRCT domains of the XRCC1 DNA repair protein. Beernink PT, Hwang M, Ramirez M, Murphy MB, Doyle SA, Thelen MP. J Biol Chem 280 30206-30213 (2005)
  38. Characterization of BRCA1 protein targeting, dynamics, and function at the centrosome: a role for the nuclear export signal, CRM1, and Aurora A kinase. Brodie KM, Henderson BR. J Biol Chem 287 7701-7716 (2012)
  39. Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. Leung CC, Gong Z, Chen J, Glover JN. J Biol Chem 286 4292-4301 (2011)
  40. Structural evidence for direct interactions between the BRCT domains of human BRCA1 and a phospho-peptide from human ACC1. Shen Y, Tong L. Biochemistry 47 5767-5773 (2008)
  41. Characterisation of the BRCT domains of the breast cancer susceptibility gene product BRCA1. Ekblad CM, Wilkinson HR, Schymkowitz JW, Rousseau F, Freund SM, Itzhaki LS. J Mol Biol 320 431-442 (2002)
  42. Letter Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S, Brinkworth R, Bekessy A, Diez O, Izatt L, Solomon E, Jenkins M, Renard H, Hopper J, Waring P, Tavtigian SV, Goldgar D, Lindeman GJ, Visvader JE, Couch FJ, Henderson BR, Southey M, Chenevix-Trench G, Spurdle AB, Brown MA, kConFab Investigators. J Med Genet 43 74-83 (2006)
  43. Joint effects of single nucleotide polymorphisms in P53BP1 and p53 on breast cancer risk in a Chinese population. Ma H, Hu Z, Zhai X, Wang S, Wang X, Qin J, Chen W, Jin G, Liu J, Gao J, Wang X, Wei Q, Shen H. Carcinogenesis 27 766-771 (2006)
  44. Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. Carvalho M, Pino MA, Karchin R, Beddor J, Godinho-Netto M, Mesquita RD, Rodarte RS, Vaz DC, Monteiro VA, Manoukian S, Colombo M, Ripamonti CB, Rosenquist R, Suthers G, Borg A, Radice P, Grist SA, Monteiro AN, Billack B. Mutat Res 660 1-11 (2009)
  45. The BRCT domain of mammalian Pes1 is crucial for nucleolar localization and rRNA processing. Hölzel M, Grimm T, Rohrmoser M, Malamoussi A, Harasim T, Gruber-Eber A, Kremmer E, Eick D. Nucleic Acids Res 35 789-800 (2007)
  46. Analysis of ligation and DNA binding by Escherichia coli DNA ligase (LigA). Wilkinson A, Smith A, Bullard D, Lavesa-Curto M, Sayer H, Bonner A, Hemmings A, Bowater R. Biochim Biophys Acta 1749 113-122 (2005)
  47. Homo-oligomerization is the essential function of the tandem BRCT domains in the checkpoint protein Crb2. Du LL, Moser BA, Russell P. J Biol Chem 279 38409-38414 (2004)
  48. Homologs of breast cancer genes in plants. Trapp O, Seeliger K, Puchta H. Front Plant Sci 2 19 (2011)
  49. Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. Coquelle N, Green R, Glover JN. Biochemistry 50 4579-4589 (2011)
  50. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. Patel VL, Busch EL, Friebel TM, Cronin A, Leslie G, McGuffog L, Adlard J, Agata S, Agnarsson BA, Ahmed M, Aittomäki K, Alducci E, Andrulis IL, Arason A, Arnold N, Artioli G, Arver B, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barroso A, Barrowdale D, Belotti M, Benitez J, Bertelsen B, Blok MJ, Bodrogi I, Bonadona V, Bonanni B, Bondavalli D, Boonen SE, Borde J, Borg A, Bradbury AR, Brady A, Brewer C, Brunet J, Buecher B, Buys SS, Cabezas-Camarero S, Caldés T, Caliebe A, Caligo MA, Calvello M, Campbell IG, Carnevali I, Carrasco E, Chan TL, Chu ATW, Chung WK, Claes KBM, Collaborators GS, Collaborators E, Cook J, Cortesi L, Couch FJ, Daly MB, Damante G, Darder E, Davidson R, de la Hoya M, Puppa LD, Dennis J, Díez O, Ding YC, Ditsch N, Domchek SM, Donaldson A, Dworniczak B, Easton DF, Eccles DM, Eeles RA, Ehrencrona H, Ejlertsen B, Engel C, Evans DG, Faivre L, Faust U, Feliubadaló L, Foretova L, Fostira F, Fountzilas G, Frost D, García-Barberán V, Garre P, Gauthier-Villars M, Géczi L, Gehrig A, Gerdes AM, Gesta P, Giannini G, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gutierrez-Barrera AM, Hahnen E, Hamann U, Hauke J, Herold N, Hogervorst FBL, Honisch E, Hopper JL, Hulick PJ, Investigators K, Investigators H, Izatt L, Jager A, James P, Janavicius R, Jensen UB, Jensen TD, Johannsson OT, John EM, Joseph V, Kang E, Kast K, Kiiski JI, Kim SW, Kim Z, Ko KP, Konstantopoulou I, Kramer G, Krogh L, Kruse TA, Kwong A, Larsen M, Lasset C, Lautrup C, Lazaro C, Lee J, Lee JW, Lee MH, Lemke J, Lesueur F, Liljegren A, Lindblom A, Llovet P, Lopez-Fernández A, Lopez-Perolio I, Lorca V, Loud JT, Ma ESK, Mai PL, Manoukian S, Mari V, Martin L, Matricardi L, Mebirouk N, Medici V, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Miller C, Gomes DM, Montagna M, Mooij TM, Moserle L, Mouret-Fourme E, Mulligan AM, Nathanson KL, Navratilova M, Nevanlinna H, Niederacher D, Nielsen FCC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Ong KR, Osorio A, Ott CE, Palli D, Park SK, Parsons MT, Pedersen IS, Peissel B, Peixoto A, Pérez-Segura P, Peterlongo P, Petersen AH, Porteous ME, Pujana MA, Radice P, Ramser J, Rantala J, Rashid MU, Rhiem K, Rizzolo P, Robson ME, Rookus MA, Rossing CM, Ruddy KJ, Santos C, Saule C, Scarpitta R, Schmutzler RK, Schuster H, Senter L, Seynaeve CM, Shah PD, Sharma P, Shin VY, Silvestri V, Simard J, Singer CF, Skytte AB, Snape K, Solano AR, Soucy P, Southey MC, Spurdle AB, Steele L, Steinemann D, Stoppa-Lyonnet D, Stradella A, Sunde L, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tommasi S, Torres D, Toss A, Trainer AH, Tung N, van Asperen CJ, van der Baan FH, van der Kolk LE, van der Luijt RB, van Hest LP, Varesco L, Varon-Mateeva R, Viel A, Vierstraete J, Villa R, von Wachenfeldt A, Wagner P, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Wieme G, Yadav S, Yannoukakos D, Yoon SY, Zanzottera C, Zorn KK, D'Amico AV, Freedman ML, Pomerantz MM, Chenevix-Trench G, Antoniou AC, Neuhausen SL, Ottini L, Nielsen HR, Rebbeck TR. Cancer Res 80 624-638 (2020)
  51. An analysis of unclassified missense substitutions in human BRCA1. Tavtigian SV, Samollow PB, de Silva D, Thomas A. Fam Cancer 5 77-88 (2006)
  52. Rtt107/Esc4 binds silent chromatin and DNA repair proteins using different BRCT motifs. Zappulla DC, Maharaj AS, Connelly JJ, Jockusch RA, Sternglanz R. BMC Mol Biol 7 40 (2006)
  53. BRCA1 can modulate RNA polymerase II carboxy-terminal domain phosphorylation levels. Moisan A, Larochelle C, Guillemette B, Gaudreau L. Mol Cell Biol 24 6947-6956 (2004)
  54. Solution structure of polymerase mu's BRCT Domain reveals an element essential for its role in nonhomologous end joining. DeRose EF, Clarkson MW, Gilmore SA, Galban CJ, Tripathy A, Havener JM, Mueller GA, Ramsden DA, London RE, Lee AL. Biochemistry 46 12100-12110 (2007)
  55. BRCA1 interacts with Smad3 and regulates Smad3-mediated TGF-beta signaling during oxidative stress responses. Li H, Sekine M, Seng S, Avraham S, Avraham HK. PLoS One 4 e7091 (2009)
  56. Molecular basis for the association of microcephalin (MCPH1) protein with the cell division cycle protein 27 (Cdc27) subunit of the anaphase-promoting complex. Singh N, Wiltshire TD, Thompson JR, Mer G, Couch FJ. J Biol Chem 287 2854-2862 (2012)
  57. Crystal structure of triple-BRCT-domain of ECT2 and insights into the binding characteristics to CYK-4. Zou Y, Shao Z, Peng J, Li F, Gong D, Wang C, Zuo X, Zhang Z, Wu J, Shi Y, Gong Q. FEBS Lett 588 2911-2920 (2014)
  58. Exploiting the P-1 pocket of BRCT domains toward a structure guided inhibitor design. Yuan Z, Kumar EA, Campbell SJ, Palermo NY, Kizhake S, Mark Glover JN, Natarajan A. ACS Med Chem Lett 2 764-767 (2011)
  59. Functional Evolution of BRCT Domains from Binding DNA to Protein. Sheng ZZ, Zhao YQ, Huang JF. Evol Bioinform Online 7 87-97 (2011)
  60. Poly(ADP-ribose) polymerase-1 inhibits ATM kinase activity in DNA damage response. Watanabe F, Fukazawa H, Masutani M, Suzuki H, Teraoka H, Mizutani S, Uehara Y. Biochem Biophys Res Commun 319 596-602 (2004)
  61. The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding. Millevoi S, Bernat S, Telly D, Fouque F, Gladieff L, Favre G, Vagner S, Toulas C. Breast Cancer Res Treat 120 391-399 (2010)
  62. CSB interacts with BRCA1 in late S/G2 to promote MRN- and CtIP-mediated DNA end resection. Batenburg NL, Walker JR, Coulombe Y, Sherker A, Masson JY, Zhu XD. Nucleic Acids Res 47 10678-10692 (2019)
  63. Cancer-related mutations in BRCA1-BRCT cause long-range structural changes in protein-protein binding sites: a molecular dynamics study. Gough CA, Gojobori T, Imanishi T. Proteins 66 69-86 (2007)
  64. Comparison of BRCT domains of BRCA1 and 53BP1: a biophysical analysis. Ekblad CM, Friedler A, Veprintsev D, Weinberg RL, Itzhaki LS. Protein Sci 13 617-625 (2004)
  65. Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance. Lyra PCM, Nepomuceno TC, de Souza MLM, Machado GF, Veloso MF, Henriques TB, Dos Santos DZ, Ribeiro IG, Ribeiro RS, Rangel LBA, Richardson M, Iversen ES, Goldgar D, Couch FJ, Carvalho MA, Monteiro ANA. Genet Med 23 306-315 (2021)
  66. BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan. Biunno I, Aceto G, Awadelkarim KD, Morgano A, Elhaj A, Eltayeb EA, Abuidris DO, Elwali NE, Spinelli C, De Blasio P, Rovida E, Mariani-Costantini R. Fam Cancer 13 437-444 (2014)
  67. Functional Impacts of the BRCA1-mTORC2 Interaction in Breast Cancer. Krieger KL, Hu WF, Ripperger T, Woods NT. Int J Mol Sci 20 E5876 (2019)
  68. Functional and structural analysis of C-terminal BRCA1 missense variants. Quiles F, Fernández-Rodríguez J, Mosca R, Feliubadaló L, Tornero E, Brunet J, Blanco I, Capellá G, Pujana MÀ, Aloy P, Monteiro A, Lázaro C. PLoS One 8 e61302 (2013)
  69. Kinetic analysis of interaction of BRCA1 tandem breast cancer c-terminal domains with phosphorylated peptides reveals two binding conformations. Nominé Y, Botuyan MV, Bajzer Z, Owen WG, Caride AJ, Wasielewski E, Mer G. Biochemistry 47 9866-9879 (2008)
  70. Purification and characterisation of a soluble N-terminal fragment of the breast cancer susceptibility protein BRCA1. Sturdy A, Naseem R, Webb M. J Mol Biol 340 469-475 (2004)
  71. Analysis of the DNA binding activity of BRCA1 and its modulation by the tumour suppressor p53. Naseem R, Webb M. PLoS One 3 e2336 (2008)
  72. Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity. Gaboriau DC, Rowling PJ, Morrison CG, Itzhaki LS. Biochem J 466 613-624 (2015)
  73. Structure and functional analysis of the BRCT domain of translesion synthesis DNA polymerase Rev1. Pryor JM, Gakhar L, Washington MT. Biochemistry 52 254-263 (2013)
  74. Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets. Drikos I, Nounesis G, Vorgias CE. Proteins 77 464-476 (2009)
  75. Efficient recognition of protein fold at low sequence identity by conservative application of Psi-BLAST: application. Stevens FJ, Kuemmel C, Babnigg G, Collart FR. J Mol Recognit 18 150-157 (2005)
  76. Bovine BRCA1 shows classic responses to genotoxic stress but low in vitro transcriptional activation activity. Krum SA, Womack JE, Lane TF. Oncogene 22 6032-6044 (2003)
  77. Characterization of a novel germline BRCA1 splice variant, c.5332+4delA. Yang C, Jairam S, Amoroso KA, Robson ME, Walsh MF, Zhang L. Breast Cancer Res Treat 168 543-550 (2018)
  78. Thermal denaturation of the BRCT tandem repeat region of human tumour suppressor gene product BRCA1. Pyrpassopoulos S, Ladopoulou A, Vlassi M, Papanikolau Y, Vorgias CE, Yannoukakos D, Nounesis G. Biophys Chem 114 1-12 (2005)
  79. p21, p53, TP53BP1 and p73 polymorphisms and the risk of gastric cardia adenocarcinoma in a Chinese population. Shao A, Zheng L, Chen S, Gu H, Jing H. Biomarkers 20 109-115 (2015)
  80. Evidence for a structural relationship between BRCT domains and the helicase domains of the replication initiators encoded by the Polyomaviridae and Papillomaviridae families of DNA tumor viruses. Kumar A, Joo WS, Meinke G, Moine S, Naumova EN, Bullock PA. J Virol 82 8849-8862 (2008)
  81. Genetic polymorphisms of TP53-binding protein 1 (TP53BP1) gene and association with breast cancer risk. Naidu R, Har YC, Taib NA. APMIS 119 460-467 (2011)
  82. Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structures. Li C, Zhang L, Zhuo Z, Su F, Li H, Xu S, Liu Y, Zhang Z, Xie Y, Yu X, Bian L, Xiao F. Theranostics 13 391-402 (2023)
  83. Assessing the pathogenicity of BRCA1/2 variants of unknown significance: Relevance and challenges for breast cancer precision medicine. De Paolis E, Paris I, Tilocca B, Roncada P, Foca L, Tiberi G, D'Angelo T, Pavese F, Muratore M, Carbognin L, Garganese G, Masetti R, Di Leone A, Fabi A, Scambia G, Urbani A, Generali D, Minucci A, Santonocito C. Front Oncol 12 1053035 (2022)
  84. Computed cancer interactome explains the effects of somatic mutations in cancers. Zhang J, Pei J, Durham J, Bos T, Cong Q. Protein Sci 31 e4479 (2022)
  85. Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions. Hovland HN, Mchaina EK, Høberg-Vetti H, Ariansen SL, Sjursen W, Van Ghelue M, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E. Genes (Basel) 14 262 (2023)
  86. Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays. Bassi N, Hovland HN, Rasheed K, Jarhelle E, Pedersen N, Mchaina EK, Bakkan SME, Iversen N, Høberg-Vetti H, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E, Van Ghelue M. BMC Cancer 23 368 (2023)
  87. Thermal and chemical denaturation of the BRCT functional module of human 53BP1. Thanassoulas A, Nomikos M, Theodoridou M, Stavros P, Mastellos D, Nounesis G. Int J Biol Macromol 49 297-304 (2011)
  88. Variant TP53BP1 rs560191 G>C is associated with risk of gastric cardia adenocarcinoma in a Chinese Han population. Zhang S, Tang W, Ding G, Liu C, Liu R, Chen S, Gu H, Yu C. Chin J Cancer Res 27 156-162 (2015)
  89. Letter 1H, 13C and 15N resonance assignments of the C-terminal BRCT domain from human BRCA1. Gaiser OJ, Oschkinat H, Heinemann U, Ball LJ. J Biomol NMR 30 221-222 (2004)
  90. Collective evidence supports neutrality of BRCA1 V1687I, a novel sequence variant in the conserved THV motif of the first BRCT repeat. Cortesi L, De Nicolo A, Medici V, Marino M, Turchetti D, Pradella LM, Rossi G, Rossi G, Parisini E, Federico M, Federico M. Breast Cancer Res Treat 134 435-441 (2012)
  91. Regulation of BRCA1 stability through the tandem UBX domains of isoleucyl-tRNA synthetase 1. Chung S, Kang MS, Alimbetov DS, Mun GI, Yunn NO, Kim Y, Kim BG, Wie M, Lee EA, Ra JS, Oh JM, Lee D, Lee K, Kim J, Han SH, Kim KT, Chung WK, Nam KH, Park J, Lee B, Kim S, Zhao W, Ryu SH, Lee YS, Myung K, Cho Y. Nat Commun 13 6732 (2022)
  92. Yeast cells reveal the misfolding and the cellular mislocalization of the human BRCA1 protein. Thouvenot P, Fourrière L, Dardillac E, Ben Yamin B, Lescure A, Lejour V, Heiligenstein X, Boulé JB, Romao M, Raposo-Benedetti G, Lopez BS, Nicolas A, Millot GA. J Cell Sci 129 4366-4378 (2016)
  93. Host Cell Reactivation and Transcriptional Activation of Carboplatin-Modified BRCA1. Ratanaphan A, Canyuk B. Breast Cancer (Auckl) 8 51-56 (2014)
  94. Hybrid-seq deciphers the complex transcriptional profile of the human BRCA1 DNA repair associated gene. Adamopoulos PG, Athanasopoulou K, Boti MA, Dimitroulis G, Daneva GN, Tsiakanikas P, Scorilas A. RNA Biol 20 281-295 (2023)


Quick links