Molecular testing in breast cancer

Annual Review of Medicine

Volumn 65, Issue , 2014, Pages 95-110

  Paoletti, Costanza ^a   Hayes, Daniel F ^a  

^a UNIVERSITY OF MICHIGAN COMPREHENSIVE CANCER CENTER   (United States)

Author keywords

Breast cancer; Tumor biomarker tests

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CARCINOEMBRYONIC ANTIGEN; MUCIN 1; TUMOR MARKER;

ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER PROGNOSIS; CANCER RISK; CANCER SCREENING; DIFFERENTIAL DIAGNOSIS; HUMAN; MAMMOGRAPHY; PATIENT CARE; PREDICTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR INVASION;

BREAST NEOPLASMS; CARCINOEMBRYONIC ANTIGEN; EARLY DETECTION OF CANCER; FEMALE; GENE EXPRESSION; GENES, BRCA1; GENES, BRCA2; GENETIC TESTING; HUMANS; INDIVIDUALIZED MEDICINE; MUCIN-1; PRACTICE GUIDELINES AS TOPIC; PROGNOSIS; RECEPTOR, ERBB-2; RECEPTORS, ESTROGEN; RECEPTORS, PROGESTERONE; RISK ASSESSMENT; TUMOR MARKERS, BIOLOGICAL;

EID: 84901501830     PISSN: 00664219     EISSN: 1545326X     Source Type: Book Series    
DOI: 10.1146/annurev-med-070912-143853     Document Type: Article

References (77)

1. Biomarkers Definitions WorkingGroup. 2001. Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin. Pharmacol. Ther. 69:89-95
2. Wolff AC, Hammond ME, Schwartz JN, et al. 2007. American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. J. Clin. Oncol. 25:118-45
3. Harris L, Fritsche H, Mennel R, et al. 2007. American Society of Clinical Oncology 2007 update of recommendations for the use of tumor markers in breast cancer. J. Clin. Oncol. 25:5287-312
4. Bose R, Kavuri SM, Searleman AC, et al. 2013. Activating HER2 mutations in HER2 gene amplification negative breast cancer. Cancer Discov. 3:224-37
5. HenryNL, HayesDF. 2006. Uses and abuses of tumormarkers in the diagnosis, monitoring, and treatment of primary and metastatic breast cancer. Oncologist 11:541-52
6. Carlson RW, Allred DC, Anderson BO, et al. 2011. Invasive breast cancer. J. Natl. Compr. Canc. Netw. 9:136-222
7. Teutsch SM, Bradley LA, Palomaki GE, et al. 2009. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPPWorking Group. Genet. Med. 11:3-14
8. Simon RM, Paik S, HayesDF. 2009. Use of archived specimens in evaluation of prognostic and predictive biomarkers. J. Natl. Cancer Inst. 101:1446-52
9. HayesDF, Bast RC, Desch CE, et al. 1996. Tumormarker utility grading system: a framework to evaluate clinical utility of tumor markers. J. Natl. Cancer Inst. 88:1456-66
10. Sargent DJ, Conley BA, Allegra C, et al. 2005. Clinical trial designs for predictive marker validation in cancer treatment trials. J. Clin. Oncol. 23:2020-27
11. Freidlin B, McShane LM, Korn EL. 2010. Randomized clinical trials with biomarkers: design issues. J. Natl. Cancer Inst. 102:152-60
12. Institute of Medicine. 2012. Evolution of Translational Omics: Lessons Learned and the Path Forward. Washington, DC: Natl. Acad. Press
13. Marmot MG. 2013. Sorting through the arguments on breast screening. JAMA 309:2553-54
14. Pritchard KI. 1998. Is tamoxifen effective in prevention of breast cancer? Lancet 352:80-81
15. FoulkesWD, Shuen AY. 2013. In brief: BRCA1 and BRCA2. J. Pathol. 230:347-49
16. Meijers-Heijboer H, van Geel B, van Putten WL, et al. 2001. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N. Engl. J. Med. 345:159-64
17. Gobbi H, DupontWD, Simpson JF, et al. 1999. Transforming growth factor-beta and breast cancer risk in women with mammary epithelial hyperplasia. J. Natl. Cancer Inst. 91:2096-101
18. Ellis MJ, Hayes DF. 1999. Refining breast cancer risk assessment with molecular markers: the next step? J. Natl. Cancer Inst. 91:2067-68
19. Zagouri F, Sergentanis TN, Zografos GC. 2007. Precursors and preinvasive lesions of the breast: the role of molecular prognostic markers in the diagnostic and therapeutic dilemma. World J. Surg. Oncol. 5:57
20. Coates AS, Simes RJ. 1992. Patient Assessment of Adjuvant Treatment in Operable Breast Cancer. New York: Wiley
21. Ravdin P, Siminoff I, Harvey J. 1998. Survey of breast cancer patients concerning their knowledge and expectations of adjuvant therapy. J. Clin. Oncol. 16:515-21
22. Lindley C, Vasa S, Sawyer T, et al. 1998. Quality of life and preferences for treatment following systemic adjuvant therapy for early stage breast cancer. J. Clin. Oncol. 16:1380-87
23. Solin LJ, Gray R, Baehner FL, et al. 2013. A multigene expression assay to predict local recurrence risk for ductal carcinoma in situ of the breast. J. Natl. Cancer Inst. 105:701-10
24. Perou CM, Jeffrey SS, van de Rijn M, et al. 1999. Distinctive gene expression patterns in human mammary epithelial cells and breast cancers. Proc. Natl. Acad. Sci. USA 96:9212-17
25. Paik S, Shak S, Tang G, et al. 2004. A multi-gene RT-PCR assay using fixed, paraffin-embedded tumor tissue to predict the likelihood of breast cancer recurrence in node negative, estrogen receptor positive, tamoxifen-treated patients. N. Engl. J. Med. 351:2817-26
26. Parker JS, MullinsM, Cheang MC, et al. 2009. Supervised risk predictor of breast cancer based on intrinsic subtypes. J. Clin. Oncol. 27:1160-67
27. Dowsett M, Salter J, Zabaglo L, et al. 2011. Predictive algorithms for adjuvant therapy: TransATAC. Steroids 76:777-80
28. Hayes DF. 2012. Targeting adjuvant chemotherapy: a good idea that needs to be proven! J. Clin. Oncol. 30:1264-67
29. Dowsett M, Cuzick J, Wale C, et al. 2010. Prediction of risk of distant recurrence using the 21-gene recurrence score in node-negative and node-positive postmenopausal patients with breast cancer treated with anastrozole or tamoxifen: a TransATAC study. J. Clin. Oncol. 28:1829-34
30. Early Breast Cancer Trialists Collaborative Group T. 2012. Comparisons between different polychemotherapy regimens for early breast cancer: meta-analyses of long-term outcome among 100, 000 women in 123 randomized trials. Lancet 379:432-44
31. Annecke K, Schmitt M, Euler U, et al. 2008. uPA and PAI-1 in breast cancer: review of their clinical utility and current validation in the prospective NNBC-3 trial. Adv. Clin. Chem. 45:31-45
32. Cuzick J, Dowsett M, Pineda S, et al. 2011. Prognostic value of a combined estrogen receptor, progesterone receptor, Ki-67, and human epidermal growth factor receptor 2 immunohistochemical score and comparison with the Genomic Health recurrence score in early breast cancer. J. Clin. Oncol. 29:4273-78
33. van de Vijver MJ, He YD, van't Veer LJ, et al. 2002. A gene-expression signature as a predictor of survival in breast cancer. N. Engl. J. Med. 347:1999-2009
34. BuyseM, Loi S, van't Veer L, et al. 2006. Validation and clinical utility of a 70-gene prognostic signature for women with node-negative breast cancer. J. Natl. Cancer Inst. 98:1183-92
35. CardosoF, Van't Veer L, Rutgers E, et al. 2008. Clinical application of the 70-gene profile: theMINDACT trial. J. Clin. Oncol. 26:729-35
36. McGuireW, Carbone PP, Sears ME, et al. 1975. Estrogen receptors in human breast cancer. In Estrogen Receptors in Human Breast Cancer, ed.WLMcGuire, PP Carbone, EP Vollmer, pp. 1-7. New York: Raven
37. Lippman ME, Allegra JC. 1980. Quantitative estrogen receptor analyses: the response to endocrine and cytotoxic chemotherapy in human breast cancer and the disease-free interval. Cancer 46:2829-34 (Pubitemid 11205642)
38. Early Breast Cancer Trialists' Collaborative Group. 1998. Tamoxifen for early breast cancer: an overview of the randomised trials. Lancet 351:1451-67
39. Hammond ME, Hayes DF, Dowsett M, et al. 2010. American Society of Clinical Oncology/College of American Pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer. J. Clin. Oncol. 28:2784-95
40. Hammond ME, Hayes DF, Dowsett M, et al. 2010. American Society of Clinical Oncology/College of American Pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer. Arch. Pathol. Lab. Med. 134:907-22
41. Symmans WF, Hatzis C, Sotiriou C, et al. 2010. Genomic index of sensitivity to endocrine therapy for breast cancer. J. Clin. Oncol. 28:4111-19
42. Jerevall PL, Ma XJ, Li H, et al. 2011. Prognostic utility of HOXB13:IL17BR and molecular grade index in early-stage breast cancer patients from the Stockholm trial. Br. J. Cancer 104:1762-69
43. Ma XJ, Hilsenbeck SG, Wang W, et al. 2006. The HOXB13:IL17BR expression index is a prognostic factor in early-stage breast cancer. J. Clin. Oncol. 24:4611-19
44. Borges S, Desta Z, Jin Y, et al. 2010. Composite functional genetic and comedication CYP2D6 activity score in predicting tamoxifen drug exposure among breast cancer patients. J. Clin. Pharmacol. 50:450-58
45. Higgins MJ, Rae JM, Flockhart DA, et al. 2009. Pharmacogenetics of tamoxifen: Who should undergo CYP2D6 genetic testing? J. Natl. Compr. Cancer Netw. 7:203-13
46. Slamon DJ, Leyland-Jones B, Shak S, et al. 2001. Use of chemotherapy plus amonoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2. N. Engl. J. Med. 344:783-92
47. Piccart-GebhartMJ, ProcterM, Leyland-Jones B, et al. 2005. Trastuzumab after adjuvant chemotherapy in HER2-positive breast cancer. N. Engl. J. Med. 353:1659-72
48. Romond EH, Perez EA, Bryant J, et al. 2005. Trastuzumab plus adjuvant chemotherapy for operable HER2-positive breast cancer. N. Engl. J. Med. 353:1673-84
49. Joensuu H, Kellokumpu-Lehtinen PL, Bono P, et al. 2006. Adjuvant docetaxel or vinorelbine with or without trastuzumab for breast cancer. N. Engl. J. Med. 354:809-20
50. Slamon D, Eiermann W, Robert N, et al. 2011. Adjuvant trastuzumab in HER2-positive breast cancer. N. Engl. J. Med. 365:1273-83
51. Press MF, Cordon CC, Slamon DJ. 1990. Expression of the HER-2/neu proto-oncogene in normal human adult and fetal tissues. Oncogene 5:953-62
52. Wolff AC, Hammond ME, Hicks DG, et al. 2013. Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists Clinical Practice GuidelineUpdate. J. Clin. Oncol. In press; simultaneous E-pub Arch. Pathol. Lab. Med.
53. Paik S, Kim C, Wolmark N. 2008. HER2 status and benefit from adjuvant trastuzumab in breast cancer. N. Engl. J. Med. 358:1409-11
54. Perez EA, Reinholz MM, Hillman DW, et al. 2010. HER2 and chromosome 17 effect on patient outcome in the N9831 adjuvant trastuzumab trial. J. Clin. Oncol. 28:4307-15
55. Ithimakin S, Day KC, Malik F, et al. 2013. HER2 drives luminal breast cancer stem cells in the absence of HER2 amplification: implications for efficacy of adjuvant trastuzumab. Cancer Res. 73:1635-46
56. Burstein HJ, Mangu PB, Somerfield MR, et al. 2011. American Society of Clinical Oncology clinical practice guideline update on the use of chemotherapy sensitivity and resistance assays. J. Clin. Oncol. 29:3328-30
57. Lippman ME, Allegra JC, Thompson EB, et al. 1978. The relation between estrogen receptors and response rate to cytotoxic chemotherapy in metastatic breast cancer. N. Engl. J. Med. 298:1223-28
58. Paik S, Tang G, Shak S, et al. 2006. Gene expression and benefit of chemotherapy in women with nodenegative, estrogen receptor-positive breast cancer. J. Clin. Oncol. 24:3726-34
59. Albain KS, Barlow WE, Shak S, et al. 2010. Prognostic and predictive value of the 21-gene recurrence score assay in postmenopausal women with node-positive, oestrogen-receptor-positive breast cancer on chemotherapy: a retrospective analysis of a randomised trial. Lancet Oncol. 11:55-65
60. GIVIO Investigators. 1994. Impact of follow-up and testing on survival and health-related quality of life in breast cancer patients: a multicenter randomized controlled trial. JAMA 271:1587-93
61. Roselli Del Turco M, Palli D, Cariddi A, et al. 1994. Intensive diagnostic follow-up after treatment of primary breast cancer: a randomized trial. JAMA 271:1593-97 (Pubitemid 24155619)
62. Kokko R, Hakama M, Holli K. 2005. Follow-up cost of breast cancer patients with localized disease after primary treatment: a randomized trial. Breast Cancer Res. Treat. 93:255-60
63. RojasMP, Telaro E, Russo A, et al. 2005. Follow-up strategies for women treated for early breast cancer. Cochrane Database Syst. Rev. CD001768
64. Khatcheressian JL, Wolff AC, Smith TJ, et al. 2006. American Society of Clinical Oncology 2006 update of the breast cancer follow-up and management guidelines in the adjuvant setting. J. Clin. Oncol. 24:5091-97
65. Brody H. 2010. Medicine's ethical responsibility for health care reform-the Top Five list. N. Engl. J. Med. 362:283-85
66. Carlson RW, Allred DC, Anderson BO, et al. 2012. Metastatic breast cancer, version 1.2012: featured updates to the NCCN guidelines. J. Natl. Compr. Cancer Netw. 10:821-29
67. Paoletti C, Smerage J, Hayes DF. 2012. Circulating tumor cells as a marker of prognosis. Principles Pract. Oncol. 26:1-8
68. Cristofanilli M, Budd GT, Ellis MJ, et al. 2004. Circulating tumor cells, disease progression, and survival in metastatic breast cancer. N. Engl. J. Med. 351:781-91
69. Liu MC, Shields PG, Warren RD, et al. 2009. Circulating tumor cells: a useful predictor of treatment efficacy in metastatic breast cancer. J. Clin. Oncol. 27:5153-59
70. HayesDF, Smerage J. 2008. Is there a role for circulating tumor cells in themanagement of breast cancer? Clin. Cancer Res. 14:3646-50
71. Hayes DF, Cristofanilli M, Budd GT, et al. 2006. Circulating tumor cells at each follow-up time point during therapy of metastatic breast cancer patients predict progression-free and overall survival. Clin. Cancer Res. 12:4218-24
72. Dawson SJ, Tsui DW, Murtaza M, et al. 2013. Analysis of circulating tumor DNA to monitor metastatic breast cancer. N. Engl. J. Med. 368:1199-209
73. Lippman M, Osborne CK. 2013. Circulating tumor DNA-ready for prime time? N. Engl. J. Med. 368:1249-50
74. Weinshilboum R. 2003. Inheritance and drug response. N. Engl. J. Med. 348:529-37
75. Rae JM, Sikora MJ, Henry NL, et al. 2009. Cytochrome P450 2D6 activity predicts discontinuation of tamoxifen therapy in breast cancer patients. Pharmacogenomics J. 9:258-64
76. Weinshilboum R. 2008. Pharmacogenomics of endocrine therapy in breast cancer. Adv. Exp. Med. Biol. 630:220-31
77. Baldwin RM, Owzar K, Zembutsu H, et al. 2012. A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101. Clin. Cancer Res. 18:5099-109