Noninvasive detection of activating estrogen receptor 1 (ESR1) mutations in estrogen receptor-positive metastatic breast cancer

Clinical Chemistry

Volumn 61, Issue 7, 2015, Pages 974-982

  Guttery, David S ^a   Page, Karen ^a   Hills, Allison ^b   Woodley, Laura ^b   Marchese, Stephanie D ^b   Rghebi, Basma ^a   Hastings, Robert K ^a   Luo, Jinli ^a   Pringle, J Howard ^a   Stebbing, Justin ^b   Coombes, R Charles ^b   Ali, Simak ^b   Shaw, Jacqueline A ^a  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

^b CHARING CROSS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ESTROGEN RECEPTOR ALPHA; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE 3 KINASE; PIK3CA PROTEIN; PROTEIN; PROTEIN P53; UNCLASSIFIED DRUG; ESTROGEN RECEPTOR ALPHA, HUMAN; PHOSPHATIDYLINOSITOL 3 KINASE; PIK3CA PROTEIN, HUMAN; TP53 PROTEIN, HUMAN;

ADULT; AGED; AMPLICON; ARTICLE; CLINICAL ARTICLE; COMPUTER PROGRAM; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; ESTROGEN RECEPTOR POSITIVE BREAST CANCER; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; NEXT GENERATION SEQUENCING; REAL TIME POLYMERASE CHAIN REACTION; SYSTEMIC THERAPY; VERY ELDERLY; BLOOD; BREAST TUMOR; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROCEDURES; REPRODUCIBILITY; TUMOR EMBOLISM;

BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; ESTROGEN RECEPTOR ALPHA; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; NEOPLASTIC CELLS, CIRCULATING; PHOSPHATIDYLINOSITOL 3-KINASES; REPRODUCIBILITY OF RESULTS; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84931855006     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2015.238717     Document Type: Article

References (42)

1. Straussman R, Morikawa T, Shee K, Barzily-Rokni M, Qian ZR, Du J, et al. Tumour micro-environment elicits innate resistance to RAF inhibitors through HGF secretion. Nature 2012;487:500-4.
2. Arimidex, Tamoxifen, Alone or in Combination (ATAC) Trialists' Group, Forbes JF, Cuzick J, Buzdar A, Howell A, et al. Effect of anastrozole and tamoxifen as adjuvant treatment for early-stage breast cancer: 100-month analysis of the ATAC trial. Lancet Oncol 2008;9:45-53.
3. Early Breast Cancer Trialists' Collaborative Group (EBCTCG). Effects of chemotherapy and hormonal therapy for early breast cancer on recurrence and 15-year survival: an overview of the randomised trials. Lancet 2005;365:1687-717.
4. Peng J, Sengupta S, Jordan VC. Potential of selective estrogen receptor modulators as treatments and preventives of breast cancer. Anticancer Agents Med Chem 2009;9:481-99.
5. Riggins RB, Schrecengost RS, Guerrero MS, Bouton AH. Pathways to tamoxifen resistance. Cancer Lett 2007;256:1-24.
6. Garcia-Becerra R, Santos N, Diaz L, Camacho J. Mechanisms of resistance to endocrine therapy in breast cancer: focus on signaling pathways, miRNAs and genetically based resistance. Int J Mol Sci 2012;14:108-45.
7. Osborne CK, Schiff R. Mechanisms of endocrine resistance in breast cancer. Annu Rev Med 2011;62:233-47.
8. Jeselsohn R, Yelensky R, Buchwalter G, Frampton G, Meric-Bernstam F, Gonzalez-Angulo AM, et al. Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer. Clin Cancer Res 2014;20:1757-67.
9. Li S, Shen D, Shao J, Crowder R, Liu W, Prat A, et al. Endocrine-therapy-resistant ESR1 variants revealed by genomic characterization of breast-cancer-derived xenografts. Cell Rep 2013;4:1116-30.
10. Merenbakh-Lamin K, Ben-Baruch N, Yeheskel A, Dvir A, Soussan-Gutman L, Jeselsohn R, et al. D538g mutation in estrogen receptor-α: a novel mechanism for acquired endocrine resistance in breast cancer. Cancer Res 2013;73:6856-64.
11. Robinson DR, Wu YM, Vats P, Su F, Lonigro RJ, Cao X, et al. Activating ESR1 mutations in hormone-resistant metastatic breast cancer. Nat Genet 2013;45:1446-51.
12. Toy W, Shen Y, Won H, Green B, Sakr RA, Will M, et al. ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. Nat Genet 2013;45:1439-45.
13. Gerlinger M, Rowan AJ, Horswell S, Larkin J, Endesfelder D, Gronroos E, et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med 2012;366:883-92.
14. Hodgkinson CL, Morrow CJ, Li Y, Metcalf RL, Rothwell DG, Trapani F, et al. Tumorigenicity and genetic profiling of circulating tumor cells in small-cell lung cancer. Nat Med 2014;20:897-903.
15. Shaw JA, Page K, Blighe K, Hava N, Guttery D, Ward B, et al. Genomic analysis of circulating cell-free DNA infers breast cancer dormancy. Genome Res 2012;22:220-31.
16. Marchetti A, Del Grammastro M, Felicioni L, Malatesta S, Filice G, Centi I, et al. Assessment of EGFR mutations in circulating tumor cell preparations from NSCLC patients by next generation sequencing: toward a real-time liquid biopsy for treatment. PloS One 2014;9:e103883.
17. Dawson SJ, Tsui DW, Murtaza M, Biggs H, Rueda OM, Chin SF, et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med 2013;368:1199-209.
18. Forshew T, Murtaza M, Parkinson C, Gale D, Tsui DW, Kaper F, et al. Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA. Sci Transl Med 2012;4:136ra68.
19. Murtaza M, Dawson SJ, Tsui DW, Gale D, Forshew T, Piskorz AM, et al. Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 2013;497:108-12.
20. Page K, Guttery DS, Zahra N, Primrose L, Elshaw SR, Pringle JH, et al. Influence of plasma processing on recovery and analysis of circulating nucleic acids. PloS One 2013;8:e77963.
21. Miller MC, Doyle GV, Terstappen LW. Significance of circulating tumor cells detected by the CellSearch system in patients with metastatic breast colorectal and prostate cancer. J Oncol 2010;2010:617421.
22. Rook MS, Delach SM, Deyneko G, Worlock A, Wolfe JL. Whole genome amplification of DNA from laser capture-microdissected tissue for high-throughput single nucleotide polymorphism and short tandem repeat genotyping. Am J Pathol 2004;164:23-33.
23. Thermo Fisher Scientific. Ion AmpliSec designer. https://www.ampliseq.com (Accessed June 2015).
24. COSMIC. Catalogue of somatic mutations in cancer. http://cancer.sanger.ac.uk/cancergenome/projects/cosmic/ (Accessed January 2015).
25. Rosell R, Moran T, Queralt C, Porta R, Cardenal F, Camps C, et al. Screening for epidermal growth factor receptor mutations in lung cancer. N Engl J Med 2009;361:958-67.
26. Primer3web. http://primer3.ut.ee (Accessed January 2015).
27. Hindson BJ, Ness KD, Masquelier DA, Belgrader P, Heredia NJ, Makarewicz AJ, et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem 2011;83:8604-10.
28. Sigma-Aldrich. OligoArchitect™ online. http://www.sigmaaldrich.com/technical-documents/articles/biology/oligoarchitect-online.html (AccessedJanuary 2015).
29. Cristofanilli M, Budd GT, Ellis MJ, Stopeck A, Matera J, Miller MC, et al. Circulating tumor cells, disease progression, and survival in metastatic breast cancer. N Engl J Med 2004;351:781-91.
30. Oesterreich S, Davidson NE. The search for ESR1 mutations in breast cancer. Nat Genet 2013;45:1415-6.
31. Austin LK, Fortina P, Sebisanovic D, Siew L, Zapanta A, Talasaz A, Cristofanilli M. Circulating tumor DNA (ctDNA) as a molecular monitoring tool in metastatic breast cancer (MBC) [Abstract]. J Clin Oncol 2014;32:11093.
32. Bidard FC, Peeters DJ, Fehm T, Nole F, Gisbert-Criado R, Mavroudis D, et al. Clinical validity of circulating tumour cells in patients with metastatic breast cancer: a pooled analysis of individual patient data. Lancet Oncol 2014;15:406-14.
33. Schwarzenbach H, Alix-Panabieres C, Muller I, Letang N, Vendrell JP, Rebillard X, Pantel K. Cell-free tumor DNA in blood plasma as a marker for circulating tumor cells in prostate cancer. Clin Cancer Res 2009;15:1032-8.
34. Neves RP, Raba K, Schmidt O, Honisch E, Meier-Stiegen F, Behrens B, et al. Genomic high-resolution profiling of single CKpos/CD45neg flow-sorting purified circulating tumor cells from patients with metastatic breast cancer. Clin Chem 2014;60:1290-7.
35. Peeters DJ, De Laere B, Van den Eynden GG, Van Laere SJ, Rothe F, Ignatiadis M, et al. Semiautomated isolation and molecular characterisation of single or highly purified tumour cells from CellSearch enriched blood samples using dielectrophoretic cell sorting. Br J Cancer 2013;108:1358-67.
36. Polzer B, Medoro G, Pasch S, Fontana F, Zorzino L, Pestka A, et al. Molecular profiling of single circulating tumor cells with diagnostic intention. EMBO Mol Med 2014;6:1371-86.
37. Yamamoto Y, Wada O, Takada I, Yogiashi Y, Shibata J, Yanagisawa J, et al. Both N- and C-terminal transactivation functions of DNA-bound ERalpha are blocked by a novel synthetic estrogen ligand. Biochem Biophys Res Commun 2003;312:656-62.
38. Samuels Y, Diaz LA Jr, Schmidt-Kittler O, Cummins JM, Delong L, Cheong I, et al. Mutant PIK3CA promotes cell growth and invasion of human cancer cells. Cancer Cell 2005;7:561-73.
39. Yu M, Bardia A, Aceto N, Bersani F, Madden MW, Donaldson MC, et al. Cancer therapy. Ex vivo culture of circulating breast tumor cells for individualized testing of drug susceptibility. Science 2014;345:216-20.
40. Coombes RC, Hall E, Gibson LJ, Paridaens R, Jassem J, Delozier T, et al. A randomized trial of exemestane after two to three years of tamoxifen therapy in postmenopausal women with primary breast cancer. N Engl J Med 2004;350:1081-92.
41. Goss PE, Ingle JN, Martino S, Robert NJ, Muss HB, Piccart MJ, et al. A randomized trial of letrozole in postmenopausal women after five years of tamoxifen therapy for early-stage breast cancer. N Engl J Med 2003;349:1793-802.
42. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. Mutation Taster evaluates disease-causing potential of sequence alterations. Nat Methods 2010;7:575-6.