Mechanisms of BRCA1 tumor suppression

Cancer Discovery

Volumn 2, Issue 8, 2012, Pages 679-684

  Silver, Daniel P ^a   Livingston, David M ^a  

^a DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA1 PROTEIN; BRCA2 PROTEIN; CISPLATIN; OLAPARIB; UBIQUITIN PROTEIN LIGASE E3;

ALLELE; ALLELIC IMBALANCE; BREAST CANCER; CANCER INHIBITION; CARCINOGENESIS; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA ADDUCT; DNA REPAIR; ENZYME ACTIVITY; ESTROGEN RECEPTOR POSITIVE BREAST CANCER; FAMILIAL CANCER; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE LOSS; HETEROCHROMATIN; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; NONHUMAN; OVARY CANCER; REVERTANT; REVIEW; RING FINGER MOTIF; TARGETED GENE REPAIR; TUMOR SUPPRESSOR GENE;

ANIMALS; BRCA1 PROTEIN; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; HUMANS; MUTATION; OVARIAN NEOPLASMS;

EID: 84866256092     PISSN: 21598274     EISSN: 21598290     Source Type: Journal    
DOI: 10.1158/2159-8290.CD-12-0221     Document Type: Review

References (53)

1. Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev 2000;14:927-39.
2. Greenberg RA, Sobhian B, Pathania S, Cantor SB, Nakatani Y, Livingston DM. Multifactorial contributions to an acute DNA damage response by BRCA1rBARD1-containing complexes. Genes Dev 2006; 20:34-6.
3. Bochar DA, Wang L, Beniya H, Kinev A, Xue Y, Lane WS, et al. BRCA1 is associated with a human SWIiSNF-related complex: linking chromatin remodeling to breast cancer. Cell 2000;102:257-65.
4. Walsh T, King MC. Ten genes for inherited breast cancer. Cancer Cell 2007;11:103-5.
5. Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 2006;22:719-29.
6. Solyom S, Aressy B, Pylkas K, Patterson-Fortin J, Hartikainen JM, Kallioniemi A, et al. Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions. Sci Transl Med 2012;4:122ra23.
7. Chen J, Silver DP, Walpita D, Cantor SB, Gazdar AF, Tomlinson G, et al. Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. Mol Cell 1998;2:317-28.
8. Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, et al. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 2001;105:149-60.
9. Zhong Q, Chen CF, Li S, Chen Y, Wang CC, Xiao J, et al. Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. Science 1999;285:747-50.
10. Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Knuutila S, Lundan T, et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis 2006;27:1593-9.
11. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007;39:165-7.
12. Wang B, Matsuoka S, Ballif BA, Zhang D, Smogorzewska A, Gygi SP, et al. Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response. Science 2007;316:1194-8.
13. Zhang F, Fan Q, Ren K, Andreassen PR. PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2. Mol Cancer Res 2009;7:1110-8.
14. Sy SM, Huen MS, Chen J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci U S A 2009;106:7155-60.
15. Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1o2 (CIMBA). Cancer Epidemiol Biomarkers Prev 2012;21:134-47.
16. Tung N, Wang Y, Collins LC, Kaplan J, Li H, Gelman R, et al. Estrogen receptor positive breast cancers in BRCA1 mutation carriers: clinical risk factors and pathologic features. Breast Cancer Res 2010; 12:R12.
17. Hosey AM, Gorski JJ, Murray MM, Quinn JE, Chung WY, Stewart GE, et al. Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer. J Natl Cancer Inst 2007;99:1683-94.
18. Fan S, Wang J, Yuan R, Ma Y, Meng Q, Erdos MR, et al. BRCA1 inhibition of estrogen receptor signaling in transfected cells. Science 1999;284:1354-6.
19. Tung N, Miron A, Schnitt SJ, Gautam S, Fetten K, Kaplan J, et al. Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers. Breast Cancer Res 2010;12:R95.
20. Liu S, Ginestier C, Charafe-Jauffret E, Foco H, Kleer CG, Merajver SD, et al. BRCA1 regulates human mammary stemeprogenitor cell fate. Proc Natl Acad Sci U S A 2008;105:1680-5.
21. Proia TA, Keller PJ, Gupta PB, Klebba I, Jones AD, Sedic M, et al. Genetic predisposition directs breast cancer phenotype by dictating progenitor cell fate. Cell Stem Cell 2011;8:149-63.
22. Lim E, Vaillant F, Wu D, Forrest NC, Pal B, Hart AH, et al. Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers. Nat Med 2009;15: 907-13.
23. Wang J, Sun Q, Morita Y, Jiang H, Gross A, Lechel A, et al. A differentiation checkpoint limits hematopoietic stem cell self-renewal in response to DNA damage. Cell 2012;148:1001-14.
24. Edwards SL, Brough R, Lord CJ, Natrajan R, Vatcheva R, Levine DA, et al. Resistance to therapy caused by intragenic deletion in BRCA2. Nature 2008;451:1111-5.
25. Sakai W, Swisher EM, Karlan BY, Agarwal MK, Higgins J, Friedman C, et al. Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers. Nature 2008;451:1116-20.
26. Swisher EM, Sakai W, Karlan BY, Wurz K, Urban N, Taniguchi T. Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance. Cancer Res 2008;68:2581-6.
27. Norquist B, Wurz KA, Pennil CC, Garcia R, Gross J, Sakai W, et al. Secondary somatic mutations restoring BRCA1n2 predict chemotherapy resistance in hereditary ovarian carcinomas. J Clin Oncol 2011;29:3008-15.
28. Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, Richardson TB, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 2005;434:917-21.
29. ter Brugge P, van der Burg E, Kristel P, Boon U, Moutinho Freixas C, Esteller M, et al. Response and acquired resistance of BRCA1-deficient triple-negative breast cancer xenografts to alkylators or PARP inhibitors [abstract]. In: Proceedings of the 34th San Antonio Breast Cancer Symposium; 2011 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; 2011. Abstract nr P5-06-02.
30. Zhu Q, Pao GM, Huynh AM, Suh H, Tonnu N, Nederlof PM, et al. BRCA1 tumour suppression occurs via heterochromatin-mediated silencing. Nature 2011;477:179-84.
31. Joukov V, Chen J, Fox EA, Green JB, Livingston DM. Functional communication between endogenous BRCA1 and its partner, BARD1, during Xenopus laevis development. Proc Natl Acad Sci U S A 2001;98:12078-83.
32. Hashizume R, Fukuda M, Maeda I, Nishikawa H, Oyake D, Yabuki Y, et al. The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. J Biol Chem 2001;276: 14537-40.
33. Manke IA, Lowery DM, Nguyen A, Yaffe MB. BRCT repeats as phosphopeptide-binding modules involved in protein targeting. Science 2003;302:636-9.
34. Yu X, Chini CC, He M, Mer G, Chen J. The BRCT domain is a phospho-protein binding domain. Science 2003;302:639-42.
35. Kim H, Chen J, Yu X. Ubiquitin-binding protein RAP80 mediates BRCA1-dependent DNA damage response. Science 2007;316:1202-5.
36. Sobhian B, Shao G, Lilli DR, Culhane AC, Moreau LA, Xia B, et al. RAP80 targets BRCA1 to specific ubiquitin structures at DNA damage sites. Science 2007;316:1198-202.
37. Shakya R, Reid LJ, Reczek CR, Cole F, Egli D, Lin CS, et al. BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity. Science 2011;334:525-8.
38. Joukov V, Groen AC, Prokhorova T, Gerson R, White E, Rodriguez A, et al. The BRCA1ABARD1 heterodimer modulates ran-dependent mitotic spindle assembly. Cell 2006;127:539-52.
39. Drost R, Bouwman P, Rottenberg S, Boon U, Schut E, Klarenbeek S, et al. BRCA1 RING function is essential for tumor suppression but dispensable for therapy resistance. Cancer Cell 2011;20:797-09.
40. Rogakou EP, Pilch DR, Orr AH, Ivanova VS, Bonner WM. DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139. J Biol Chem 1998;273:5858-68.
41. Tassone P, Tagliaferri P, Perricelli A, Blotta S, Quaresima B, Martelli ML, et al. BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells. Br J Cancer 2003;88:1285-91.
42. Scully R, Ganesan S, Vlasakova K, Chen J, Socolovsky M, Livingston DM. Genetic analysis of BRCA1 function in a defined tumor cell line. Mol Cell 1999;4:1093-9.
43. Byrski T, Huzarski T, Dent R, Gronwald J, Zuziak D, Cybulski C, et al. Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 2009;115: 359-63.
44. Ganesan S, Silver DP, Greenberg RA, Avni D, Drapkin R, Miron A, et al. BRCA1 supports XIST RNA concentration on the inactive X chromosome. Cell 2002;111:393-405.
45. Silver DP, Dimitrov SD, Feunteun J, Gelman R, Drapkin R, Lu SD, et al. Further evidence for BRCA1 communication with the inactive X chromosome. Cell 2007;128:991-1002.
46. Jeon Y, Lee JT. YY1 tethers Xist RNA to the inactive X nucleation center. Cell 2011;146:119-33.
47. Diaz-Perez SV, Ferguson DO, Wang C, Csankovszki G, Wang C, Tsai SC, et al. A deletion at the mouse Xist gene exposes trans-effects that alter the heterochromatin of the inactive X chromosome and the replication time and DNA stability of both X chromosomes. Genetics 2006;174:1115-33.
48. Pathania S, Nguyen J, Hill SJ, Scully R, Adelmant GO, Marto JA, et al. BRCA1 is required for postreplication repair after UV-induced DNA damage. Mol Cell 2011;44:235-51.
49. Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van't Veer L, Garber JE, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002;346:1616-22.
50. Narod SA, Offit K. Prevention and management of hereditary breast cancer. J Clin Oncol 2005;23:1656-63.
51. Birkbak NJ, Wang ZC, Kim J-Y, Eklund AC, Li Q, Tian R, et al. Telomeric allelic imbalance indicates defective DNA repair and sensitivity to DNA-damaging agents. Cancer Discov 2012;2:366-75.
52. Turner N, Tutt A, Ashworth A. Hallmarks of 'BRCAness' in sporadic cancers. Nat Rev Cancer 2004;4:814-9.
53. Hastings PJ, Ira G, Lupski JR. A microhomology-mediated breakinduced replication model for the origin of human copy number variation. PLoS Genet 2009;5:e1000327.