Significance of TP53 mutations determined by next-generation "deep" sequencing in prognosis of estrogen receptor-positive breast cancer

Cancer Letters

Volumn 342, Issue 1, 2014, Pages 19-26

  Uji, Kumiko ^a   Naoi, Yasuto ^a   Kagara, Naofumi ^a   Shimoda, Masafumi ^a   Shimomura, Atsushi ^a   Maruyama, Naomi ^a   Shimazu, Kenzo ^a   Kim, Seung Jin ^a   Noguchi, Shinzaburo ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Breast cancer; Next generation deep sequencing; TP53 mutation

Indexed keywords

ESTROGEN RECEPTOR;

ANALYTIC METHOD; ARTICLE; BREAST CANCER; CANCER GRADING; CANCER PROGNOSIS; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; HISTOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEXT GENERATION DEEP SEQUENCING; ONCOGENE; PRIORITY JOURNAL; TP53 GENE;

BREAST CANCER; NEXT-GENERATION DEEP SEQUENCING; TP53 MUTATION;

BASE SEQUENCE; BREAST NEOPLASMS; CARCINOMA, DUCTAL, BREAST; COHORT STUDIES; COMBINED MODALITY THERAPY; DISEASE-FREE SURVIVAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KAPLAN-MEIER ESTIMATE; MIDDLE AGED; MUTATION, MISSENSE; NEOPLASM RECURRENCE, LOCAL; PROGNOSIS; RECEPTORS, ESTROGEN; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84887612980     PISSN: 03043835     EISSN: 18727980     Source Type: Journal    
DOI: 10.1016/j.canlet.2013.08.028     Document Type: Article

References (31)

1. Ko L.J., Prives C. P53: puzzle and paradigm. Genes Dev. 1996, 10:1054-1072.
2. Velculescu V.E., El-Deiry W.S. Biological and clinical importance of the p53 tumor suppressor gene. Clin. Chem. 1996, 42:858-868.
3. Greenblatt M.S., Bennett W.P., Hollstein M., Harris C.C. Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis. Cancer Res. 1994, 54:4855-4878.
4. Borresen-Dale A.L. TP53 and breast cancer. Hum. Mutat. 2003, 21:292-300.
5. Olivier M., Langerod A., Carrieri P., Bergh J., Klaar S., Eyfjord J., Theillet C., Rodriguez C., Lidereau R., Bieche I., Varley J., Bignon Y., Uhrhammer N., Winqvist R., Jukkola-Vuorinen A., Niederacher D., Kato S., Ishioka C., Hainaut P., Borresen-Dale A.L. The clinical value of somatic TP53 gene mutations in 1794 patients with breast cancer. Clin. Cancer Res. 2006, 12:1157-1167.
6. Pharoah P.D., Day N.E., Caldas C. Somatic mutations in the p53 gene and prognosis in breast cancer: a meta-analysis. Br. J. Cancer 1999, 80:1968-1973.
7. Bertheau P., Espie M., Turpin E., Lehmann J., Plassa L.F., Varna M., Janin A., de The H. TP53 status and response to chemotherapy in breast cancer. Pathobiology 2008, 75:132-139.
8. Varna M., Bousquet G., Plassa L.F., Bertheau P., Janin A. TP53 status and response to treatment in breast cancers. J. Biomed. Biotechnol. 2011, 284-584.
9. Aas T., Borresen A.L., Geisler S., Smith-Sorensen B., Johnsen H., Varhaug J.E., Akslen L.A., Lonning P.E. Specific P53 mutations are associated with de novo resistance to doxorubicin in breast cancer patients. Nat. Med. 1996, 2:811-814.
10. Bertheau P., Plassa F., Espie M., Turpin E., de Roquancourt A., Marty M., Lerebours F., Beuzard Y., Janin A., de The H. Effect of mutated TP53 on response of advanced breast cancers to high-dose chemotherapy. Lancet 2002, 360:852-854.
11. Bertheau P., Turpin E., Rickman D.S., Espie M., de Reynies A., Feugeas J.P., Plassa L.F., Soliman H., Varna M., de Roquancourt A., Lehmann-Che J., Beuzard Y., Marty M., Misset J.L., Janin A., de The H. Exquisite sensitivity of TP53 mutant and basal breast cancers to a dose-dense epirubicin-cyclophosphamide regimen. PLoS Med. 2007, 4:e90.
12. Berns E.M., Foekens J.A., Vossen R., Look M.P., Devilee P., Henzen-Logmans S.C., van Staveren I.L., van Putten W.L., Inganas M., Meijer-van Gelder M.E., Cornelisse C., Claassen C.J., Portengen H., Bakker B., Klijn J.G. Complete sequencing of TP53 predicts poor response to systemic therapy of advanced breast cancer. Cancer Res. 2000, 60:2155-2162.
13. Kim H.S., Yom C.K., Kim H.J., Lee J.W., Sohn J.H., Kim J.H., Park Y.L., Ahn S.H. Overexpression of p53 is correlated with poor outcome in premenopausal women with breast cancer treated with tamoxifen after chemotherapy. Breast Cancer Res. Treat. 2010, 121:777-788.
14. Cleator S.J., Powles T.J., Dexter T., Fulford L., Mackay A., Smith I.E., Valgeirsson H., Ashworth A., Dowsett M. The effect of the stromal component of breast tumours on prediction of clinical outcome using gene expression microarray analysis. Breast Cancer Res. 2006, 8:R32.
15. Kohlmann A., Klein H.U., Weissmann S., Bresolin S., Chaplin T., Cuppens H., Haschke-Becher E., Garicochea B., Grossmann V., Hanczaruk B., Hebestreit K., Gabriel C., Iacobucci I., Jansen J.H., te Kronnie G., van de Locht L., Martinelli G., McGowan K., Schweiger M.R., Timmermann B., Vandenberghe P., Young B.D., Dugas M., Haferlach T. The Interlaboratory RObustness of Next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories. Leukemia 2011, 25:1840-1848.
16. Buttitta F., Felicioni L., Del Grammastro M., Filice G., Di Lorito A., Malatesta S., Viola P., Centi I., D'Antuono T., Zappacosta R., Rosini S., Cuccurullo F., Marchetti A. Effective assessment of EGFR mutation status in bronchoalveolar lavage and pleural fluids by next-generation sequencing. Clin. Cancer Res. 2013, 19:691-698.
17. Moskalev E.A., Stohr R., Rieker R., Hebele S., Fuchs F., Sirbu H., Mastitsky S.E., Boltze C., Konig H., Agaimy A., Hartmann A., Haller F. Increased detection rates of EGFR and KRAS mutations in NSCLC specimens with low tumour cell content by 454 deep sequencing. Virchows Arch. 2013, 462:409-419.
18. Miller L.D., Smeds J., George J., Vega V.B., Vergara L., Ploner A., Pawitan Y., Hall P., Klaar S., Liu E.T., Bergh J. An expression signature for p53 status in human breast cancer predicts mutation status, transcriptional effects, and patient survival. Proc. Natl. Acad. Sci. USA 2005, 102:13550-13555.
19. Takahashi S., Moriya T., Ishida T., Shibata H., Sasano H., Ohuchi N., Ishioka C. Prediction of breast cancer prognosis by gene expression profile of TP53 status. Cancer Sci. 2008, 99:324-332.
20. Oshima K., Naoi Y., Kishi K., Nakamura Y., Iwamoto T., Shimazu K., Nakayama T., Kim S.J., Baba Y., Tamaki Y., Noguchi S. Gene expression signature of TP53 but not its mutation status predicts response to sequential paclitaxel and 5-FU/epirubicin/cyclophosphamide in human breast cancer. Cancer Lett. 2011, 307:149-157.
21. Jiang Q., Turner T., Sosa M.X., Rakha A., Arnold S., Chakravarti A. Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer. Hum. Mutat. 2012, 33:281-289.
22. Morimoto K., Kim S.J., Tanei T., Shimazu K., Tanji Y., Taguchi T., Tamaki Y., Terada N., Noguchi S. Stem cell marker aldehyde dehydrogenase 1-positive breast cancers are characterized by negative estrogen receptor, positive human epidermal growth factor receptor type 2, and high Ki67 expression. Cancer Sci. 2009, 100:1062-1068.
23. Shimomura A., Miyoshi Y., Taguchi T., Tamaki Y., Noguchi S. Association of loss of BRCA1 expression with centrosome aberration in human breast cancer. J. Cancer Res. Clin. Oncol. 2009, 135:421-430.
24. Bloom H.J., Richardson W.W. Histological grading and prognosis in breast cancer; a study of 1409 cases of which 359 have been followed for 15years. Br. J. Cancer 1957, 11:359-377.
25. Parker J.S., Mullins M., Cheang M.C., Leung S., Voduc D., Vickery T., Davies S., Fauron C., He X., Hu Z., Quackenbush J.F., Stijleman I.J., Palazzo J., Marron J.S., Nobel A.B., Mardis E., Nielsen T.O., Ellis M.J., Perou C.M., Bernard P.S. Supervised risk predictor of breast cancer based on intrinsic subtypes. J. Clin. Oncol. 2009, 27:1160-1167.
26. Elloumi F., Hu Z., Li Y., Parker J.S., Gulley M.L., Amos K.D., Troester M.A. Systematic bias in genomic classification due to contaminating non-neoplastic tissue in breast tumor samples. BMC Med. Genomics 2011, 4:54.
27. Thompson A.M., Anderson T.J., Condie A., Prosser J., Chetty U., Carter D.C., Evans H.J., Steel C.M. P53 allele losses, mutations and expression in breast cancer and their relationship to clinico-pathological parameters. Int. J. Cancer 1992, 50:528-532.
28. Deng G., Chen L.C., Schott D.R., Thor A., Bhargava V., Ljung B.M., Chew K., Smith H.S. Loss of heterozygosity and p53 gene mutations in breast cancer. Cancer Res. 1994, 54:499-505.
29. Bergh J., Norberg T., Sjogren S., Lindgren A., Holmberg L. Complete sequencing of the p53 gene provides prognostic information in breast cancer patients, particularly in relation to adjuvant systemic therapy and radiotherapy. Nat. Med. 1995, 1:1029-1034.
30. Harris L., Fritsche H., Mennel R., Norton L., Ravdin P., Taube S., Somerfield M.R., Hayes D.F., Bast R.C. American Society of Clinical Oncology 2007 update of recommendations for the use of tumor markers in breast cancer. J. Clin. Oncol. 2007, 25:5287-5312.
31. Sjogren S., Inganas M., Norberg T., Lindgren A., Nordgren H., Holmberg L., Bergh J. The p53 gene in breast cancer: prognostic value of complementary DNA sequencing versus immunohistochemistry. J. Natl. Cancer Inst. 1996, 88:173-182.