Prognostic role of PIK3CA mutations of cell-free DNA in early-stage triple negative breast cancer

Cancer Science

Volumn 106, Issue 11, 2015, Pages 1582-1589

  Takeshita, Takashi ^a   Yamamoto, Yutaka ^b   Yamamoto Ibusuki, Mutsuko ^a   Inao, Toko ^a   Sueta, Aiko ^b   Fujiwara, Saori ^a   Omoto, Yoko ^a,c   Iwase, Hirotaka ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b KUMAMOTO UNIVERSITY HOSPITAL   (Japan)

^c KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

Author keywords

Androgen receptor; Androgen receptor phosphorylation; Droplet digital PCR; PIK3CA mutations of circulating cell free DNA; Triple negative breast cancer

Indexed keywords

ANDROGEN RECEPTOR; CELL FREE DNA; DNA; GENOMIC DNA; KI 67 ANTIGEN; PHOSPHATIDYLINOSITOL 3 KINASE; TUMOR MARKER; UNCLASSIFIED DRUG; PIK3CA PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; BREAST CANCER SPECIFIC SURVIVAL; CANCER PROGNOSIS; CANCER RECURRENCE; CANCER SPECIFIC SURVIVAL; CANCER SURVIVAL; CLINICAL ARTICLE; DISTANT METASTASIS; DROPLET DIGITAL POLYMERASE CHAIN REACTION; EARLY CANCER; FOLLOW UP; GENE MUTATION; HUMAN; HUMAN TISSUE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RECURRENCE FREE SURVIVAL; SENSITIVITY AND SPECIFICITY; SIGNAL TRANSDUCTION; TRIPLE NEGATIVE BREAST CANCER; WILD TYPE; BLOOD; CANCER STAGING; DISEASE FREE SURVIVAL; FEMALE; GENETICS; IMMUNOHISTOCHEMISTRY; KAPLAN MEIER METHOD; MIDDLE AGED; MORTALITY; MUTATION; PROCEDURES; PROPORTIONAL HAZARDS MODEL;

AGED; BIOMARKERS, TUMOR; DISEASE-FREE SURVIVAL; DNA; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; KAPLAN-MEIER ESTIMATE; MIDDLE AGED; MUTATION; NEOPLASM STAGING; PHOSPHATIDYLINOSITOL 3-KINASES; POLYMERASE CHAIN REACTION; PROPORTIONAL HAZARDS MODELS; TRIPLE NEGATIVE BREAST NEOPLASMS;

EID: 84983094866     PISSN: 13479032     EISSN: 13497006     Source Type: Journal    
DOI: 10.1111/cas.12813     Document Type: Article

References (45)

1. Lin NU, Vanderplas A, Hughes ME et al. Clinicopathologic features, patterns of recurrence, and survival among women with triple-negative breast cancer in the National Comprehensive Cancer Network. Cancer 2012; 118: 5463-72.
2. Dent R, Trudeau M, Pritchard KI et al. Triple-negative breast cancer: clinical features and patterns of recurrence. Clin Cancer Res 2007; 13: 4429-34.
3. Iwase H, Kurebayashi J, Tsuda H et al. Clinicopathological analyses of triple negative breast cancer using surveillance data from the Registration Committee of the Japanese Breast Cancer Society. Breast Cancer 2010; 17: 118-24.
4. Cancer Genome Atlas N. Comprehensive molecular portraits of human breast tumours. Nature 2012; 490: 61-70.
5. Shah SP, Roth A, Goya R et al. The clonal and mutational evolution spectrum of primary triple-negative breast cancers. Nature 2012; 486: 395-9.
6. Saal LH, Holm K, Maurer M et al. PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. Cancer Res 2005; 65: 2554-9.
7. Stemke-Hale K, Gonzalez-Angulo AM, Lluch A et al. An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. Cancer Res 2008; 68: 6084-91.
8. Cizkova M, Susini A, Vacher S et al. PIK3CA mutation impact on survival in breast cancer patients and in ERalpha, PR and ERBB2-based subgroups. Breast Cancer Res 2012; 14: R28.
9. Doane AS, Danso M, Lal P et al. An estrogen receptor-negative breast cancer subset characterized by a hormonally regulated transcriptional program and response to androgen. Oncogene 2006; 25: 3994-4008.
10. Gonzalez-Angulo AM, Stemke-Hale K, Palla SL et al. Androgen receptor levels and association with PIK3CA mutations and prognosis in breast cancer. Clin Cancer Res 2009; 15: 2472-8.
11. Pang B, Cheng S, Sun SP et al. Prognostic role of PIK3CA mutations and their association with hormone receptor expression in breast cancer: a meta-analysis. Sci Rep 2014; 4: 6255.
12. Kalinsky K, Jacks LM, Heguy A et al. PIK3CA mutation associates with improved outcome in breast cancer. Clin Cancer Res 2009; 15: 5049-59.
13. Zardavas D, Phillips WA, Loi S. PIK3CA mutations in breast cancer: reconciling findings from preclinical and clinical data. Breast Cancer Res 2014; 16: 201.
14. Cuorvo LV, Verderio P, Ciniselli CM et al. PI3KCA mutation status is of limited prognostic relevance in ER-positive breast cancer patients treated with hormone therapy. Virchows Arch 2014; 464: 85-93.
15. Peters AA, Buchanan G, Ricciardelli C et al. Androgen receptor inhibits estrogen receptor-alpha activity and is prognostic in breast cancer. Cancer Res 2009; 69: 6131-40.
16. Agoff SN, Swanson PE, Linden H, Hawes SE, Lawton TJ. Androgen receptor expression in estrogen receptor-negative breast cancer. Immunohistochemical, clinical, and prognostic associations. Am J Clin Pathol 2003; 120: 725-31.
17. He J, Peng R, Yuan Z et al. Prognostic value of androgen receptor expression in operable triple-negative breast cancer: a retrospective analysis based on a tissue microarray. Med Oncol 2012; 29: 406-10.
18. Micello D, Marando A, Sahnane N, Riva C, Capella C, Sessa F. Androgen receptor is frequently expressed in HER2-positive. ER/PR-negative breast cancers. Virchows Arch 2010; 457: 467-76.
19. Tang D, Xu S, Zhang Q, Zhao W. The expression and clinical significance of the androgen receptor and E-cadherin in triple-negative breast cancer. Med Oncol 2012; 29: 526-33.
20. Hu R, Dawood S, Holmes MD et al. Androgen receptor expression and breast cancer survival in postmenopausal women. Clin Cancer Res 2011; 17: 1867-74.
21. Takeshita T, Omoto Y, Yamamoto-Ibusuki M, Yamamoto Y, Iwase H. Clinical significance of androgen receptor and its phosphorylated form in breast cancer. Endocr Relat Cancer 2013; 20: L15-21.
22. Diehl F, Li M, Dressman D et al. Detection and quantification of mutations in the plasma of patients with colorectal tumors. Proc Natl Acad Sci USA 2005; 102: 16368-73.
23. Dawson SJ, Tsui DW, Murtaza M et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med 2013; 368: 1199-209.
24. Wang C, Ozaki T, Takita R, Uchiyama M. Aryl ether as a Negishi coupling partner: an approach for constructing C-C bonds under mild conditions. Chemistry 2012; 18: 3482-5.
25. Board RE, Wardley AM, Dixon JM et al. Detection of PIK3CA mutations in circulating free DNA in patients with breast cancer. Breast Cancer Res Treat 2010; 120: 461-7.
26. Beaver JA, Jelovac D, Balukrishna S et al. Detection of cancer DNA in plasma of patients with early-stage breast cancer. Clin Cancer Res 2014; 20: 2643-50.
27. Hindson CM, Chevillet JR, Briggs HA et al. Absolute quantification by droplet digital PCR versus analog real-time PCR. Nat Methods 2013; 10: 1003-5.
28. Hindson BJ, Ness KD, Masquelier DA et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem 2011; 83: 8604-10.
29. Karakas B, Bachman KE, Park BH. Mutation of the PIK3CA oncogene in human cancers. Br J Cancer 2006; 94: 455-9.
30. Goldhirsch A, Wood WC, Gelber RD, Coates AS, Thurlimann B, Senn HJ. Meeting highlights: updated international expert consensus on the primary therapy of early breast cancer. J Clin Oncol 2003; 21: 3357-65.
31. Goldhirsch A, Glick JH, Gelber RD et al. Meeting highlights: international expert consensus on the primary therapy of early breast cancer 2005. Ann Oncol 2005; 16: 1569-83.
32. Goldhirsch A, Wood WC, Gelber RD et al. Progress and promise: highlights of the international expert consensus on the primary therapy of early breast cancer 2007. Ann Oncol 2007; 18: 1133-44.
33. Pekin D, Skhiri Y, Baret JC et al. Quantitative and sensitive detection of rare mutations using droplet-based microfluidics. Lab Chip 2011; 11: 2156-66.
34. Sueta A, Yamamoto Y, Yamamoto-Ibusuki M et al. An integrative analysis of PIK3CA mutation, PTEN, and INPP4B expression in terms of trastuzumab efficacy in HER2-positive breast cancer. PLoS ONE 2014; 9: e116054.
35. McShane LM, Altman DG, Sauerbrei W et al. Reporting recommendations for tumor marker prognostic studies. J Clin Oncol 2005; 23: 9067-72.
36. Goldhirsch A, Wood WC, Coates AS et al. Strategies for subtypes-Dealing with the diversity of breast cancer: highlights of the St. Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2011. Ann Oncol 2011; 22: 1736-47.
37. Diaz LA Jr, Bardelli A. Liquid biopsies: genotyping circulating tumor DNA. J Clin Oncol 2014; 32: 579-86.
38. Chu D, Paoletti C, Gersch C et al. ESR1 mutations in circulating plasma tumor DNA from metastatic breast cancer patients. Clin Cancer Res 2015; doi: 10.1158/1078-0432.CCR-15-0943 [Epub ahead of print]
39. Merenbakh-Lamin K, Ben-Baruch N, Yeheskel A et al. D538G mutation in estrogen receptor-alpha: a novel mechanism for acquired endocrine resistance in breast cancer. Cancer Res 2013; 73: 6856-64.
40. Oshiro C, Kagara N, Naoi Y et al. PIK3CA mutations in serum DNA are predictive of recurrence in primary breast cancer patients. Breast Cancer Res Treat 2015; 150: 299-307.
41. Perez-Tenorio G, Alkhori L, Olsson B et al. PIK3CA mutations and PTEN loss correlate with similar prognostic factors and are not mutually exclusive in breast cancer. Clin Cancer Res 2007; 13: 3577-84.
42. Hardin C, Pommier R, Calhoun K, Muller P, Jackson T, Pommier S. A new hormonal therapy for estrogen receptor-negative breast cancer. World J Surg 2007; 31: 1041-6.
43. Lehmann BD, Bauer JA, Schafer JM et al. PIK3CA mutations in androgen receptor-positive triple negative breast cancer confer sensitivity to the combination of PI3K and androgen receptor inhibitors. Breast Cancer Res 2014; 16: 406.
44. Eichhorn PJ, Gili M, Scaltriti M et al. Phosphatidylinositol 3-kinase hyperactivation results in lapatinib resistance that is reversed by the mTOR/phosphatidylinositol 3-kinase inhibitor NVP-BEZ235. Cancer Res 2008; 68: 9221-30.
45. Garcia-Echeverria C, Sellers WR. Drug discovery approaches targeting the PI3K/Akt pathway in cancer. Oncogene 2008; 27: 5511-26.