Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome

International Journal of Cancer

Volumn 132, Issue 9, 2013, Pages 2044-2055

  Jamshidi, Maral ^a   Schmidt, Marjanka K ^b   Dörk, Thilo ^c   Garcia Closas, Montserrat ^d,e   Heikkinen, Tuomas ^a   Cornelissen, Sten ^b   Van Den Broek, Alexandra J ^b   Schürmann, Peter ^c   Meyer, Andreas ^c   Park Simon, Tjoung Won ^c   Figueroa, Jonine ^d   Sherman, Mark ^d   Lissowska, Jolanta ^f   Keong, Garrett Teoh Hor ^g   Irwanto, Astrid ^g   Laakso, Marko ^h   Hautaniemi, Sampsa ^h   Aittomäki, Kristiina ⁱ   Blomqvist, Carl ⁱ   Liu, Jianjun ^g   Nevanlinna, Heli ^a   more..

^a UNIVERSITY OF HELSINKI   (Finland)

^b NETHERLANDS CANCER INSTITUTE   (Netherlands)

^c HANNOVER MEDICAL SCHOOL   (Germany)

^d NATIONAL CANCER INSTITUTE   (United States)

^e INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^f INSTITUTE OF ONCOLOGY   (Poland)

^g GENOME INSTITUTE OF SINGAPORE   (Singapore)

^h UNIVERSITY OF HELSINKI   (Finland)

ⁱ HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

breast cancer; hormonal therapy; MDM2; PPP2R2B; PRKAG2; TP53

Indexed keywords

ANTINEOPLASTIC HORMONE AGONISTS AND ANTAGONISTS; PROTEIN MDM2; PROTEIN P53;

ADULT; ALLELE; ARTICLE; BREAST CANCER; CANCER ADJUVANT THERAPY; CANCER GRADING; CANCER HORMONE THERAPY; CANCER PROGNOSIS; CANCER SURVIVAL; CONTROLLED STUDY; FEMALE; FINLAND; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE INTERACTION; GENE REGULATORY NETWORK; GENETIC CORRELATION; GENETIC MARKER; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MDM2 GENE; OVERALL SURVIVAL; PP2R2B GENE; PRIORITY JOURNAL; PRKAG2 GENE; PROTEIN PROTEIN INTERACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL TIME; TP53 GENE; TREATMENT OUTCOME;

ADULT; AMP-ACTIVATED PROTEIN KINASES; ANTINEOPLASTIC AGENTS, HORMONAL; BREAST NEOPLASMS; CARCINOMA, DUCTAL, BREAST; CARCINOMA, LOBULAR; FEMALE; GENE REGULATORY NETWORKS; GENOTYPE; GERM-LINE MUTATION; HUMANS; MIDDLE AGED; NEOPLASM GRADING; NEOPLASM INVASIVENESS; NEOPLASM METASTASIS; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; PROTEIN PHOSPHATASE 2; PROTO-ONCOGENE PROTEINS C-MDM2; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; RNA, NEOPLASM; SURVIVAL RATE; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84874118863     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.27884     Document Type: Article

References (52)

1. Fasching P, Ekici A, Adamietz B, et al. Breast cancer risk: genes, environment and clinics. 2011; 71: 1056-66.
2. Fagerholm R, Hofstetter B, Tommiska J, et al. NAD(P)H:Quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer. Nat Genet 2008; 40: 844-53.
3. Azzato EM, Pharoah PD, Harrington P, et al. A genome-wide association study of prognosis in breast cancer. Cancer Epidemiol Biomarkers Prev 2010; 19: 1140-3.
4. Fasching PA, Pharoah PD, Cox A, et al. The role of genetic breast cancer susceptibility variants as prognostic factors. Hum Mol Genet 2012; 21: 3926-39.
5. Tommiska J, Eerola H, Heinonen M, et al. Breast cancer patients with p53 Pro72 homozygous genotype have a poorer survival. Clin Cancer Res 2005; 11: 5098-103.
6. Schmidt MK, Tommiska J, Broeks A, et al. Combined effects of single nucleotide polymorphisms TP53 R72P and MDM2 SNP309, and p53 expression on survival of breast cancer patients. Breast Cancer Res 2009; 11: R89.
7. Riley T, Sontag E, Chen P, et al. Transcriptional control of human p53-regulated genes. Nat Rev Mol Cell Biol 2008; 9: 402-12.
8. Bond GL, Hu W, Bond EE, et al. A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 2004; 119: 591-602.
9. Vazquez A, Bond EE, Levine AJ, et al. The genetics of the p53 pathway, apoptosis and cancer therapy. Nat Rev Drug Discov 2008; 7: 979-87.
10. Vazquez A, Grochola LF, Bond EE, et al. Chemosensitivity profiles identify polymorphisms in the p53 network genes 14-3-3tau and CD44 that affect sarcoma incidence and survival. Cancer Res 2010; 70: 172-80.
11. Levine AJ,. P53, the cellular gatekeeper for growth and division. Cell 1997; 88: 323-31.
12. Vazquez A, Kulkarni D, Grochola LF, et al. A genetic variant in a PP2A regulatory subunit encoded by the PPP2R2B gene associates with altered breast cancer risk and recurrence. Int J Cancer 2011; 128: 2335-43.
13. Curtis C, Shah SP, Chin SF, et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature 2012; 486: 346-52.
14. Liu J, Desai KV, Li Y, et al. Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development. Hugo J 2009; 3: 31-40.
15. Thomas M, Kalita A, Labrecque S, et al. Two polymorphic variants of wild-type p53 differ biochemically and biologically. Mol Cell Biol 1999; 19: 1092-100.
16. Sakamuro D, Sabbatini P, White E, et al. The polyproline region of p53 is required to activate apoptosis but not growth arrest. Oncogene 1997; 15: 887-98.
17. Salvioli S, Bonafe M, Barbi C, et al. p53 codon 72 alleles influence the response to anticancer drugs in cells from aged people by regulating the cell cycle inhibitor p21WAF1. Cell Cycle 2005; 4: 1264-71.
18. Boersma BJ, Howe TM, Goodman JE, et al. Association of breast cancer outcome with status of p53 and MDM2 SNP309. J Natl Cancer Inst 2006; 98: 911-19.
19. Breast Cancer Association Consortium. Commonly studied single-nucleotide polymorphisms and breast cancer: results from the breast cancer association consortium. J Natl Cancer Inst 2006; 98: 1382-96.
20. Schmidt MK, Reincke S, Broeks A, et al. Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium. Cancer Res 2007; 67: 9584-90.
21. Ruijs MW, Schmidt MK, Nevanlinna H, et al. The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the li-fraumeni syndrome and related phenotypes. Eur J Hum Genet 2007; 15: 110-14.
22. Broeks A, Schmidt MK, Sherman ME, et al. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the breast cancer association consortium. Hum Mol Genet 2011; 20: 3289-303.
23. Schmidt MK, Tollenaar RA, de Kemp SR, et al. Breast cancer survival and tumor characteristics in premenopausal women carrying the CHEK2*1100delC germline mutation. J Clin Oncol 2007; 25: 64-9.
24. Landwehr R, Bogdanova NV, Antonenkova N, et al. Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. Breast Cancer Res Treat 2011; 130: 1021-8.
25. Kilpivaara O, Bartkova J, Eerola H, et al. Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients. Int J Cancer 2005; 113: 575-80.
26. Syrjakoski K, Vahteristo P, Eerola H, et al. Population-based study of BRCA1 and BRCA2 mutations in 1035 unselected Finnish breast cancer patients. J Natl Cancer Inst 2000; 92: 1529-31.
27. Garcia-Closas M, Egan KM, Newcomb PA, et al. Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and poland, and meta-analyses. Hum Genet 2006; 119: 376-88.
28. Tommiska J, Bartkova J, Heinonen M, et al. The DNA damage signalling kinase ATM is aberrantly reduced or lost in BRCA1/BRCA2-deficient and ER/PR/ERBB2-triple-negative breast cancer. Oncogene 2008; 27: 2501-6.
29. McShane LM, Altman DG, Sauerbrei W, et al.; Statistics Subcommittee of NCI-EORTC Working Group on Cancer Diagnostics. REporting recommendations for tumor MARKer prognostic studies (REMARK). Breast Cancer Res Treat 2006; 100: 229-35.
30. Li J, Humphreys K, Darabi H, et al. A genome-wide association scan on estrogen receptor-negative breast cancer. Breast Cancer Res 2010; 12: R93.
31. Li J, Humphreys K, Heikkinen T, et al. A combined analysis of genome-wide association studies in breast cancer. Breast Cancer Res Treat 2011; 126: 717-27.
32. Eerola H, Blomqvist C, Pukkala E, et al. Familial breast cancer in southern Finland: how prevalent are breast cancer families and can we trust the family history reported by patients? Eur J Cancer 2000; 36: 1143-8.
33. Garcia-Closas M, Kristensen V, Langerod A, et al. Common genetic variation in TP53 and its flanking genes, WDR79 and ATP1B2, and susceptibility to breast cancer. Int J Cancer 2007; 121: 2532-8.
34. Jamshidi M, Bartkova J, Greco D, et al. NQO1 expression correlates inversely with NFkappaB activation in human breast cancer. Breast Cancer Res Treat 2012; 132: 955-68.
35. Ovaska K, Laakso M, Haapa-Paananen S, et al. Large-scale data integration framework provides a comprehensive view on glioblastoma multiforme. Genome Med 2010; 2: 65.
36. Wang W, Guan KL,. AMP-activated protein kinase and cancer. Acta Physiol (Oxf) 2009; 196: 55-63.
37. Anderson KA, Ribar TJ, Lin F, et al. Hypothalamic CaMKK2 contributes to the regulation of energy balance. Cell Metab 2008; 7: 377-88.
38. Tamas P, Hawley SA, Clarke RG, et al. Regulation of the energy sensor AMP-activated protein kinase by antigen receptor and Ca2+ in T lymphocytes. J Exp Med 2006; 203: 1665-70.
39. Shen Z, Wen XF, Lan F, et al. The tumor suppressor gene LKB1 is associated with prognosis in human breast carcinoma. Clin Cancer Res 2002; 8: 2085-90.
40. Hardie DG, Carling D, Carlson M,. The AMP-activated/SNF1 protein kinase subfamily: metabolic sensors of the eukaryotic cell? Annu Rev Biochem 1998; 67: 821-55.
41. Mihaylova MM, Shaw RJ,. The AMPK signalling pathway coordinates cell growth, autophagy and metabolism. Nat Cell Biol 2011; 13: 1016-23.
42. Jones RG, Plas DR, Kubek S, et al. AMP-activated protein kinase induces a p53-dependent metabolic checkpoint. Mol Cell 2005; 18: 283-93.
43. Jeon SM, Chandel NS, Hay N,. AMPK regulates NADPH homeostasis to promote tumour cell survival during energy stress. Nature 2012; 485: 661-5.
44. Liu C, Liang B, Wang Q, et al. Activation of AMP-activated protein kinase alpha1 alleviates endothelial cell apoptosis by increasing the expression of anti-apoptotic proteins bcl-2 and survivin. J Biol Chem 2010; 285: 15346-55.
45. Laderoute KR, Amin K, Calaoagan JM, et al. 5′-AMP-activated protein kinase (AMPK) is induced by low-oxygen and glucose deprivation conditions found in solid-tumor microenvironments. Mol Cell Biol 2006; 26: 5336-47.
46. Mumby M,. PP2A: unveiling a reluctant tumor suppressor. Cell 2007; 130: 21-4.
47. Keen JC, Garrett-Mayer E, Pettit C, et al. Epigenetic regulation of protein phosphatase 2A (PP2A), lymphotactin (XCL1) and estrogen receptor alpha (ER) expression in human breast cancer cells. Cancer Biol Ther 2004; 3: 1304-12.
48. Gopalakrishna R, Gundimeda U, Fontana JA, et al. Differential distribution of protein phosphatase 2A in human breast carcinoma cell lines and its relation to estrogen receptor status. Cancer Lett 1999; 136: 143-51.
49. Li HH, Cai X, Shouse GP, et al. A specific PP2A regulatory subunit, B56gamma, mediates DNA damage-induced dephosphorylation of p53 at Thr55. EMBO J 2007; 26: 402-11.
50. Okamoto K, Li H, Jensen MR, et al. Cyclin G recruits PP2A to dephosphorylate Mdm2. Mol Cell 2002; 9: 761-71.
51. Chen J, Martin BL, Brautigan DL,. Regulation of protein serine-threonine phosphatase type-2A by tyrosine phosphorylation. Science 1992; 257: 1261-4.
52. Wong LL, Chang CF, Koay ES, et al. Tyrosine phosphorylation of PP2A is regulated by HER-2 signalling and correlates with breast cancer progression. Int J Oncol 2009; 34: 1291-301.