Table of Contents Author Guidelines Submit a Manuscript
Journal of Oncology
Volume 2019, Article ID 1947215, 5 pages
https://doi.org/10.1155/2019/1947215
Research Article

Association of ESR1 Mutations and Visceral Metastasis in Patients with Estrogen Receptor-Positive Advanced Breast Cancer from Brazil

1PPG Ciências Médicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil
2Centro de Pesquisa da Serra Gaúcha (CEPESG), Caxias do Sul, Brazil
3Latin American Cooperative Oncology Group (LACOG), Porto Alegre, Brazil
4Grupo Diagnose Patologia, Genética e Biologia Molecular, Caxias do Sul, Brazil
5FARO STAT Solutions, Porto Alegre, Brazil
6Instituto Nacional do Câncer (INCA), Rio de Janeiro, Brazil
7Clínica São Vicente, Rio de Janeiro, Brazil

Correspondence should be addressed to Tomás Reinert; moc.liamtoh@treniersamot

Received 15 April 2019; Accepted 2 June 2019; Published 14 August 2019

Guest Editor: Chia-Jung Li

Copyright © 2019 Tomás Reinert et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. F. Cardoso, E. Senkus, A. Costa et al., “4th ESO-ESMO international consensus guidelines for advanced breast cancer (ABC 4),” Annals of Oncology, vol. 29, no. 8, pp. 1634–1657, 2018. View at Publisher · View at Google Scholar · View at Scopus
  2. C. K. Osborne and R. Schiff, “Mechanisms of endocrine resistance in breast cancer,” Annual Review of Medicine, vol. 62, no. 1, pp. 233–247, 2011. View at Publisher · View at Google Scholar · View at Scopus
  3. C. X. Ma, T. Reinert, I. Chmielewska, and M. J. Ellis, “Mechanisms of aromatase inhibitor resistance,” Nature Reviews Cancer, vol. 15, no. 5, pp. 261–275, 2015. View at Publisher · View at Google Scholar · View at Scopus
  4. R. Jeselsohn, R. Yelensky, G. Buchwalter et al., “Emergence of constitutively active estrogen receptor- mutations in pretreated advanced estrogen receptor-positive breast cancer,” Clinical Cancer Research, vol. 20, no. 7, pp. 1757–1767, 2014. View at Publisher · View at Google Scholar · View at Scopus
  5. C. M. Perou, T. Sørlie, M. B. Eisen et al., “Molecular portraits of human breast tumours,” Nature, vol. 406, no. 6797, pp. 747–752, 2000. View at Publisher · View at Google Scholar · View at Scopus
  6. S. Kumar, D. Lindsay, Q. B. Chen et al., “Tracking plasma DNA mutation dynamics in estrogen receptor positive metastatic breast cancer with dPCR-SEQ,” NPJ Breast Cancer, vol. 4, no. 1, p. 39, 2018. View at Publisher · View at Google Scholar
  7. D. Chu, C. Paoletti, C. Gersch et al., “ESR1 mutations in circulating plasma tumor DNA from metastatic breast cancer patients,” Clinical Cancer Research, vol. 22, no. 4, pp. 993–999, 2016. View at Publisher · View at Google Scholar · View at Scopus
  8. G. Schiavon, S. Hrebien, I. Garcia-Murillas et al., “Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer,” Science Translational Medicine, vol. 7, no. 313, Article ID 313ra182, 2015. View at Publisher · View at Google Scholar · View at Scopus
  9. R. Jeselsohn, G. Buchwalter, C. De Angelis, M. Brown, and R. Schiff, “ESR1 mutations-a mechanism for acquired endocrine resistance in breast cancer,” Nature Reviews Clinical Oncology, vol. 12, no. 10, pp. 573–583, 2015. View at Publisher · View at Google Scholar · View at Scopus
  10. K. Tryfonidis, D. Zardavas, B. S. Katzenellenbogen, and M. Piccart, “Endocrine treatment in breast cancer: cure, resistance and beyond,” Cancer Treatment Reviews, vol. 50, pp. 68–81, 2016. View at Publisher · View at Google Scholar · View at Scopus
  11. T. Reinert, R. Goncalves, and J. Bines, “Implications of ESR1 mutations in hormone receptor-positive breast cancer,” Current Treatment Options in Oncology, vol. 19, no. 5, p. 24, 2018. View at Publisher · View at Google Scholar · View at Scopus
  12. A. Maggi, “Liganded and unliganded activation of estrogen receptor and hormone replacement therapies,” Biochimica et Biophysica Acta (BBA)—Molecular Basis of Disease, vol. 1812, no. 8, pp. 1054–1060, 2011. View at Publisher · View at Google Scholar · View at Scopus
  13. S. Li, D. Shen, J. Shao et al., “Endocrine-therapy-resistant ESR1 variants revealed by genomic characterization of breast-cancer-derived xenografts,” Cell Reports, vol. 4, no. 6, pp. 1116–1130, 2013. View at Publisher · View at Google Scholar · View at Scopus
  14. S. W. Fanning, C. G. Mayne, V. Dharmarajan et al., “Estrogen receptor alpha somatic mutations Y537S and D538G confer breast cancer endocrine resistance by stabilizing the activating function-2 binding conformation,” elife, vol. 5, Article ID e12792, 2016. View at Publisher · View at Google Scholar · View at Scopus
  15. F. Holst, “Estrogen receptor alpha gene amplification in breast cancer: 25 years of debate,” World Journal of Clinical Oncology, vol. 7, no. 2, pp. 160–173, 2016. View at Publisher · View at Google Scholar · View at Scopus
  16. Z. Suba, “Amplified crosstalk between estrogen binding and GFR signaling mediated pathways of ER activation drives responses in tumors treated with endocrine disruptors,” Recent Patents on Anti-Cancer Drug Discovery, vol. 13, no. 4, pp. 428–444, 2018. View at Publisher · View at Google Scholar · View at Scopus
  17. L. Caizzi, G. Ferrero, S. Cutrupi et al., “Genome-wide activity of unliganded estrogen receptor-α in breast cancer cells,” Proceedings of the National Academy of Sciences, vol. 111, no. 13, pp. 4892–4897, 2014. View at Publisher · View at Google Scholar · View at Scopus
  18. F. Holst, P. R. Stahl, C. Ruiz et al., “Estrogen receptor alpha (ESR1) gene amplification is frequent in breast cancer,” Nature Genetics, vol. 39, no. 5, pp. 655–660, 2007. View at Publisher · View at Google Scholar · View at Scopus
  19. C. Fribbens, I. G. Murillas, M. Beaney et al., “Tracking evolution of aromatase inhibitor resistance with circulating tumour DNA analysis in metastatic breast cancer,” Annals of Oncology, vol. 29, no. 1, pp. 145–153, 2018. View at Publisher · View at Google Scholar · View at Scopus
  20. W. Toy, Y. Shen, H. Won et al., “ESR1 ligand-binding domain mutations in hormone-resistant breast cancer,” Nature Genetics, vol. 45, no. 12, pp. 1439–1445, 2013. View at Publisher · View at Google Scholar · View at Scopus
  21. R. Jeselsohn, C. De Angelis, M. Brown, and R. Schiff, “The evolving role of the estrogen receptor mutations in endocrine therapy-resistant breast cancer,” Current Oncology Reports, vol. 19, no. 5, p. 35, 2017. View at Publisher · View at Google Scholar · View at Scopus
  22. H. M. Weir, R. H. Bradbury, M. Lawson et al., “AZD9496: an oral estrogen receptor inhibitor that blocks the growth of ER-positive and ESR1-mutant breast tumors in preclinical models,” Cancer Research, vol. 76, no. 11, pp. 3307–3318, 2016. View at Publisher · View at Google Scholar · View at Scopus
  23. S. W. Fanning, R. Jeselsohn, V. Dharmarajan et al., “The SERM/SERD bazedoxifene disrupts ESR1 helix 12 to overcome acquired hormone resistance in breast cancer cells,” eLife, vol. 7, 2018. View at Publisher · View at Google Scholar · View at Scopus
  24. Y. Kuang, B. Siddiqui, J. Hu et al., “Unraveling the clinicopathological features driving the emergence of ESR1 mutations in metastatic breast cancer,” NPJ Breast Cancer, vol. 4, no. 1, p. 22, 2018. View at Publisher · View at Google Scholar · View at Scopus
  25. D. R. Robinson, Y.-M. Wu, P. Vats et al., “Activating ESR1 mutations in hormone-resistant metastatic breast cancer,” Nature Genetics, vol. 45, no. 12, pp. 1446–1451, 2013. View at Publisher · View at Google Scholar · View at Scopus
  26. N. C. Turner, J. Ro, F. André et al., “Palbociclib in hormone-receptor-positive advanced breast cancer,” New England Journal of Medicine, vol. 373, no. 3, pp. 209–219, 2015. View at Publisher · View at Google Scholar · View at Scopus
  27. C. Fribbens, B. O’Leary, L. Kilburn et al., “Plasma ESR1 mutations and the treatment of estrogen receptor-positive advanced breast cancer,” Journal of Clinical Oncology, vol. 34, no. 25, pp. 2961–2968, 2016. View at Publisher · View at Google Scholar · View at Scopus
  28. S. D. Simon, J. Bines, G. Werutsky et al., “Characteristics and prognosis of stage I–III breast cancer subtypes in Brazil: the AMAZONA retrospective cohort study,” The Breast, vol. 44, pp. 113–119, 2019. View at Publisher · View at Google Scholar · View at Scopus
  29. F. M. Carvalho, L. M. Bacchi, K. M. Pincerato, M. Van de Rijn, and C. E. Bacchi, “Geographic differences in the distribution of molecular subtypes of breast cancer in Brazil,” BMC Women’s Health, vol. 14, no. 1, p. 102, 2014. View at Publisher · View at Google Scholar · View at Scopus
  30. A. C. Gelatti, F. Moura, A. M. F. Gaiger et al., “Lower prevalence of PD-L1 expression in advanced non-small lung cancer in Brazil,” Journal of Clinical Oncology, vol. 36, no. 15, Article ID e21140, 2018. View at Publisher · View at Google Scholar
  31. J. A. Shaw, D. S. Guttery, A. Hills et al., “Mutation analysis of cell-free DNA and single circulating tumor cells in metastatic breast cancer patients with high circulating tumor cell counts,” Clinical Cancer Research, vol. 23, no. 1, pp. 88–96, 2017. View at Publisher · View at Google Scholar · View at Scopus
  32. R. Jeselsohn, “Are we ready to use ESR1 mutations in clinical practice?” Breast Care, vol. 12, no. 5, pp. 309–313, 2017. View at Publisher · View at Google Scholar · View at Scopus