Exploring the link between germline and somatic genetic alterations in breast carcinogenesis

PLoS ONE

Volumn 5, Issue 11, 2010, Pages

  Bonifaci, Núria ^a   Górski, Bohdan ^b   Masojć, Bartlomiej ^b   Wokołorczyk, Dominika ^b   Jakubowska, Anna ^b   Debniak, Tadeusz ^b   Berenguer, Antoni ^a   Musach, Jordi Serra ^a   Brunet, Joan ^a   Dopazo, Joaquín ^c   Narod, Steven A ^d   Lubiński, Jan ^b   Lázaro, Conxi ^e   Cybulski, Cezary ^b   Pujana, Miguel Angel ^a,e  

^a CATALAN INSTITUTE OF ONCOLOGY   (Spain)

^b POMERANIAN MEDICAL UNIVERSITY   (Poland)

^c CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^d WOMEN S COLLEGE HOSPITAL   (Canada)

^e BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; BRCA1 PROTEIN; CASPASE 8; CYCLIN DEPENDENT KINASE 2; CYCLOOXYGENASE 2; DUAL SPECIFICITY TYROSINE PHOSPHORYLATION REGULATED KINASE 2; EPHRIN RECEPTOR A3; EPHRIN RECEPTOR A7; EPHRIN RECEPTOR B1; ESTROGEN RECEPTOR ALPHA; FIBROBLAST GROWTH FACTOR RECEPTOR 2; MITOGEN ACTIVATED PROTEIN KINASE 3; MITOGEN ACTIVATED PROTEIN KINASE KINASE KINASE 1; PROTEIN KINASE; RAD51 PROTEIN; UNCLASSIFIED DRUG; BMPR1A PROTEIN, HUMAN; BONE MORPHOGENETIC PROTEIN RECEPTOR 1; CALCIUM CALMODULIN DEPENDENT PROTEIN KINASE; CDKL2 PROTEIN, HUMAN; DYRK KINASE; EPHA3 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; PROTEIN TYROSINE KINASE;

ADULT; AGED; ARTICLE; BREAST CARCINOGENESIS; CANCER GROWTH; CANCER RISK; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; ONSET AGE; POLAND; PREDICTION; PROTEIN EXPRESSION; PROTEIN FUNCTION; SOMATIC MUTATION; BREAST; BREAST TUMOR; CASE CONTROL STUDY; DISEASE COURSE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MUTATION; PATHOLOGY; RISK; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; BREAST; BREAST NEOPLASMS; CALCIUM-CALMODULIN-DEPENDENT PROTEIN KINASES; CASE-CONTROL STUDIES; DISEASE PROGRESSION; ESTROGEN RECEPTOR ALPHA; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GERM-LINE MUTATION; HUMANS; ODDS RATIO; POLAND; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; PROTEIN-TYROSINE KINASES; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, EPHA7; RECEPTOR, EPHB1; RISK FACTORS;

EID: 78649546043     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0014078     Document Type: Article

References (68)

1. Easton DF, Eeles RA (2008) Genome-wide association studies in cancer. Hum Mol Genet 17: R109-R115.
2. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, et al. (2007) A genomewide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 39: 870-874.
3. Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, et al. (2009) A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet 41: 579-584.
4. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, et al. (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447: 1087-1093.
5. Stacey SN, Manolescu A, Sulem P, Thorlacius S, Gudjonsson SA, et al. (2008) Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 40: 703-706.
6. Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, et al. (2009) Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 41: 585-590.
7. Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, et al. (2009) Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 18: 4442-4456.
8. Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, et al. (2008) Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet 82: 937-948.
9. Antoniou AC, Sinilnikova OM, Simard J, Leone M, Dumont M, et al. (2007) RAD51 135GRC modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 81: 1186-1200.
10. Hansen RM, Goriely A, Wall SA, Roberts IS, Wilkie AO (2005) Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link. J Pathol 207: 27-31.
11. Stephens P, Edkins S, Davies H, Greenman C, Cox C, et al. (2005) A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer. Nat Genet 37: 590-592.
12. Garcia-Closas M, Chanock S (2008) Genetic susceptibility loci for breast cancer by estrogen receptor status. Clin Cancer Res 14: 8000-8009.
13. Zheng W, Long J, Gao YT, Li C, Zheng Y, et al. (2009) Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 41: 324-328.
14. Dunning AM, Healey CS, Baynes C, Maia AT, Scollen S, et al. (2009) Association of ESR1 gene tagging SNPs with breast cancer risk. Hum Mol Genet 18: 1131-1139.
15. Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, et al. (2010) Genomewide association study identifies five new breast cancer susceptibility loci. Nat Genet 42: 504-507.
16. Houlston RS, Webb E, Broderick P, Pittman AM, Di Bernardo MC, et al. (2008) Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 40: 1426-1435.
17. Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, et al. (2007) A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet 39: 1315-1317.
18. Levy L, Hill CS (2006) Alterations in components of the TGF-beta superfamily signaling pathways in human cancer. Cytokine Growth Factor Rev 17: 41-58.
19. Wheeler JM, Kim HC, Efstathiou JA, Ilyas M, Mortensen NJ, et al. (2001) Hypermethylation of the promoter region of the E-cadherin gene (CDH1) in sporadic and ulcerative colitis associated colorectal cancer. Gut 48: 367-371.
20. Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, et al. (1998) Ecadherin germline mutations in familial gastric cancer. Nature 392: 402-405.
21. Richards FM, McKee SA, Rajpar MH, Cole TR, Evans DG, et al. (1999) Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet 8: 607-610.
22. Pomerantz MM, Ahmadiyeh N, Jia L, Herman P, Verzi MP, et al. (2009) The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. Nat Genet 41: 882-884.
23. Tuupanen S, Turunen M, Lehtonen R, Hallikas O, Vanharanta S, et al. (2009) The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet 41: 885-890.
24. Solé X, Herna ́ndez P, de Heredia ML, Armengol L, Rodŕguez-Santiago B, et al. (2008) Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility. BMC Genomics 9: 12.
25. Sotelo J, Esposito D, Duhagon MA, Banfield K, Mehalko J, et al. (2010) Longrange enhancers on 8q24 regulate c-Myc. Proc Natl Acad Sci U S A 107: 3001-3005.
26. Bonifaci N, Berenguer A, Di{dotless} ́ez J, Reina O, Medina I, et al. (2008) Biological processes, properties and molecular wiring diagrams of candidate lowpenetrance breast cancer susceptibility genes. BMC Med Genomics 1: 62.
27. Medina I, Montaner D, Bonifaci N, Pujana MA, Carbonell J, et al. (2009) Gene set-based analysis of polymorphisms: finding pathways or biological processes associated to traits in genome-wide association studies. Nucleic Acids Res 37: W340-W344.
28. Kraft P, Raychaudhuri S (2009) Complex diseases, complex genes: keeping pathways on the right track. Epidemiology 20: 508-511.
29. Stanley SM, Bailey TL, Mattick JS (2006) GONOME: measuring correlations between GO terms and genomic positions. BMC Bioinformatics 7: 94.
30. Furney SJ, Higgins DG, Ouzounis CA, López-Bigas N (2006) Structural and functional properties of genes involved in human cancer. BMC Genomics 7: 3.
31. Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, et al. (2005) Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A 102: 15545-15550.
32. Benjamini Y, Hochberg Y (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. J Roy Statist Soc Ser B 57: 289-300.
33. Menashe I, Maeder D, Garcia-Closas M, Figueroa JD, Bhattacharjee S, et al. (2010) Pathway analysis of breast cancer genome-wide association study highlights three pathways and one canonical signaling cascade. Cancer Res 70: 4453-4459.
34. Stratton MR, Campbell PJ, Futreal PA (2009) The cancer genome. Nature 458: 719-724.
35. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, et al. (2007) Patterns of somatic mutation in human cancer genomes. Nature 446: 153-158.
36. McMurray HR, Sampson ER, Compitello G, Kinsey C, Newman L, et al. (2008) Synergistic response to oncogenic mutations defines gene class critical to cancer phenotype. Nature 453: 1112-1116.
37. Saetrom P, Biesinger J, Li SM, Smith D, Thomas LF, et al. (2009) A risk variant in an miR-125b binding site in BMPR1B is associated with breast cancer pathogenesis. Cancer Res 69: 7459-7465.
38. Wokolorczyk D, Gliniewicz B, Sikorski A, Zlowocka E, Masojc B, et al. (2008) A range of cancers is associated with the rs6983267 marker on chromosome 8. Cancer Res 68: 9982-9986.
39. Merlos-Suárez A, Batlle E (2008) Eph-ephrin signalling in adult tissues and cancer. Curr Opin Cell Biol 20: 194-200.
40. Vaught D, Brantley-Sieders DM, Chen J (2008) Eph receptors in breast cancer: roles in tumor promotion and tumor suppression. Breast Cancer Res 10: 217.
41. Emery LA, Tripathi A, King C, Kavanah M, Mendez J, et al. (2009) Early dysregulation of cell adhesion and extracellular matrix pathways in breast cancer progression. Am J Pathol 175: 1292-1302.
42. Cortina C, Palomo-Ponce S, Iglesias M, Fernández-Masip JL, Vivancos A, et al. (2007) EphB-ephrin-B interactions suppress colorectal cancer progression by compartmentalizing tumor cells. Nat Genet 39: 1376-1383.
43. Claus EB, Risch NJ, Thompson WD (1990) Using age of onset to distinguish between subforms of breast cancer. Ann Hum Genet 54: 169-177.
44. Taglienti CA, Wysk M, Davis RJ (1996) Molecular cloning of the epidermal growth factor-stimulated protein kinase p56 KKIAMRE. Oncogene 13: 2563-2574.
45. Taira N, Yamamoto H, Yamaguchi T, Miki Y, Yoshida K (2010) ATM augments nuclear stabilization of DYRK2 by inhibiting MDM2 in the apoptotic response to DNA damage. J Biol Chem 285: 4909-4919.
46. Brantley-Sieders DM, Zhuang G, Hicks D, Fang WB, Hwang Y, et al. (2008) The receptor tyrosine kinase EphA2 promotes mammary adenocarcinoma tumorigenesis and metastatic progression in mice by amplifying ErbB2 signaling. J Clin Invest 118: 64-78.
47. Schnitt SJ (2009) The transition from ductal carcinoma in situ to invasive breast cancer: the other side of the coin. Breast Cancer Res 11: 101.
48. Colditz GA, Hankinson SE (2005) The Nurses' Health Study: lifestyle and health among women. Nat Rev Cancer 5: 388-396.
49. van't Veer LJ, Dai H, van de Vijver MJ, He YD, Hart AA, et al. (2002) Gene expression profiling predicts clinical outcome of breast cancer. Nature 415: 530-536.
50. Chi JT, Wang Z, Nuyten DS, Rodriguez EH, Schaner ME, et al. (2006) Gene expression programs in response to hypoxia: cell type specificity and prognostic significance in human cancers. PLoS Med 3: e47.
51. Chang HY, Nuyten DS, Sneddon JB, Hastie T, Tibshirani R, et al. (2005) Robustness, scalability, and integration of a wound-response gene expression signature in predicting breast cancer survival. Proc Natl Acad Sci U S A 102: 3738-3743.
52. Perou CM, Sorlie T, Eisen MB, van de Rijn M, Jeffrey SS, et al. (2000) Molecular portraits of human breast tumours. Nature 406: 747-752.
53. Liu R, Wang X, Chen GY, Dalerba P, Gurney A, et al. (2007) The prognostic role of a gene signature from tumorigenic breast-cancer cells. N Engl J Med 356: 217-226.
54. Minn AJ, Gupta GP, Siegel PM, Bos PD, Shu W, et al. (2005) Genes that mediate breast cancer metastasis to lung. Nature 436: 518-524.
55. Ramaswamy S, Ross KN, Lander ES, Golub TR (2003) A molecular signature of metastasis in primary solid tumors. Nat Genet 33: 49-54.
56. Ayers M, Symmans WF, Stec J, Damokosh AI, Clark E, et al. (2004) Gene expression profiles predict complete pathologic response to neoadjuvant paclitaxel and fluorouracil, doxorubicin, and cyclophosphamide chemotherapy in breast cancer. J Clin Oncol 22: 2284-2293.
57. Chang JC, Wooten EC, Tsimelzon A, Hilsenbeck SG, Gutierrez MC, et al. (2005) Patterns of resistance and incomplete response to docetaxel by gene expression profiling in breast cancer patients. J Clin Oncol 23: 1169-1177.
58. Ma XJ, Wang Z, Ryan PD, Isakoff SJ, Barmettler A, et al. (2004) A two-gene expression ratio predicts clinical outcome in breast cancer patients treated with tamoxifen. Cancer Cell 5: 607-616.
59. Wang XD, Reeves K, Luo FR, Xu LA, Lee F, et al. (2007) Identification of candidate predictive and surrogate molecular markers for dasatinib in prostate cancer: rationale for patient selection and efficacy monitoring. Genome Biol 8: R255.
60. van de Vijver MJ, He YD, van't Veer LJ, Dai H, Hart AA, et al. (2002) A geneexpression signature as a predictor of survival in breast cancer. N Engl J Med 347: 1999-2009.
61. Carroll JS, Meyer CA, Song J, Li W, Geistlinger TR, et al. (2006) Genome-wide analysis of estrogen receptor binding sites. Nat Genet 38: 1289-1297.
62. Futreal PA, Coin L, Marshall M, Down T, Hubbard T, et al. (2004) A census of human cancer genes. Nat Rev Cancer 4: 177-183.
63. Forbes SA, Tang G, Bindal N, Bamford S, Dawson E, et al. (2010) COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer. Nucleic Acids Res 38: D652-657.
64. Stephens PJ, McBride DJ, Lin ML, Varela I, Pleasance ED, et al. (2009) Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature 462: 1005-1010.
65. Santarius T, Shipley J, Brewer D, Stratton MR, Cooper CS (2010) A census of amplified and overexpressed human cancer genes. Nat Rev Cancer 10: 59-64.
66. Irizarry RA, Hobbs B, Collin F, Beazer-Barclay YD, Antonellis KJ, et al. (2003) Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 4: 249-264.
67. Tusher VG, Tibshirani R, Chu G (2001) Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci U S A 98: 5116-5121.
68. Gorski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, et al. (2000) Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet 66: 1963-1968.