Association between the estrogen receptor α A908G mutation and outcomes in invasive breast cancer

Clinical Cancer Research

Volumn 13, Issue 11, 2007, Pages 3235-3243

  Herynk, Matthew H ^a   Parra, Irma ^a   Cui, Yukun ^a,b   Beyer, Amanda ^a   Wu, Meng Fen ^a   Hilsenbeck, Susan G ^a   Fuqua, Suzanne A W ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b ZHEJIANG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; ESTROGEN RECEPTOR ALPHA;

ADULT; AGED; ARTICLE; AXILLARY LYMPH NODE; BREAST CANCER; CANCER DIAGNOSIS; CANCER SURVIVAL; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE MARKER; DNA ISOLATION; FEMALE; GENE SEQUENCE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MULTIVARIATE ANALYSIS; MUTATION; PRIORITY JOURNAL; PROPORTIONAL HAZARDS MODEL; RECURRENT DISEASE; STATISTICAL SIGNIFICANCE; TUMOR VOLUME; UNIVARIATE ANALYSIS;

ADULT; BREAST NEOPLASMS; DNA PRIMERS; DNA, NEOPLASM; ESTROGEN RECEPTOR ALPHA; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; LYMPHATIC METASTASIS; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION; NEOPLASM INVASIVENESS; PROGNOSIS; PROPORTIONAL HAZARDS MODELS; TREATMENT OUTCOME;

EID: 34250681785     PISSN: 10780432     EISSN: None     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-06-2608     Document Type: Article

References (46)

1. Allred DC, Mohsin SK, Fuqua SA. Histological and biological evolution of human premalignant breast disease. Endocr Relat Cancer 2001;8:47-61.
2. Elledge RM, Fuqua SAW. Estrogen and progesterone receptors. In: Harris JR, Lippman ME, Morrow M, et al. editors. Diseases of the breast. Philadelphia: Lippincott, Williams & Wilkins; 2000. p. 471-88.
3. Hopp TA, Weiss HL, Parra IS, et al. Low levels of estrogen receptor β protein predict resistance to tamoxifen therapy in breast cancer. Clin Cancer Res 2004;10:7490-9.
4. Pike MC, Spicer DV, Dahmoush L, et al. Estrogens, progestins, normal breast cell proliferation, and breast cancer risk. Epidemiol Rev 1993;15:17-35.
5. McGuire WL, Chamness GC, Fuqua SAW. Estrogen receptor variants in clinical breast cancer. Mol Endocrinol 1991;5:1571-7.
6. Fuqua SAW, Wiltschke C, Zhang QX, et al. A hypersensitive estrogen receptor - a mutation in premalignant breast lesions. Cancer Res 2000;60:4026-9.
7. Herynk MH, Fuqua SA. Estrogen receptor mutations in human disease. Endocr Rev 2004;25:869-98.
8. Tebbit CL, Bentley RC, Olson JA, Jr., et al. Estrogen receptor α (ESR1) mutant A908G is not a common feature in benign and malignant proliferations of the breast. Genes Chromosomes Cancer 2004;40:51-4.
9. Tokunaga E, Kimura Y, Maehara Y. No hypersensitive estrogen receptor-α mutation (K303R) in Japanese breast carcinomas. Breast Cancer Res Treat 2004;84:289-92.
10. Zhang Z, Yamashita H, Toyama T, et al. Estrogen receptor a mutation (a-to-g transition at nucleotide 908) is not found in different types of breast lesions from Japanese women. Breast Cancer 2003;10:70-3.
11. Fuqua SAW, Cui Y, Mohsin SK, et al. The estrogen receptor α A908G mutation is present in invasive breast cancer. Proc Am Assoc Cancer Res 2005;87.
12. Rosenblum BB, Lee LG, Spurgeon SL, et al. New dye-labeled terminators for improved DNA sequencing patterns. Nucleic Acids Res 1997;25:4500-4.
13. Sokolov BP. Primer extension technique for the detection of single nucleotide in genomic DNA. Nucleic Acids Res 1990;18:3671.
14. Martin MD, Hilsenbeck SG, Mohsin SK, et al. Breast tumors that overexpress nuclear metastasis-associated 1 (MTA1) protein have high recurrence risks but enhanced responses to systemic therapies. Breast Cancer Res Treat 2006;95:7-12.
15. Bardou VJ, Arpino G, Elledge RM, et al. Progesterone receptor status significantly improves outcome prediction over estrogen receptor status alone for adjuvant endocrine therapy in two large breast cancer databases. J Clin Oncol 2003;21:1973-9.
16. Hopp TA, Weiss HL, Hilsenbeck SG, et al. Breast cancer patients with progesterone receptor PR-A-rich tumors have poorer disease-free survival rates. Clin Cancer Res 2004;10:2751-60.
17. Harvey JM. Estrogen receptor status by immunohistochemistry is superior to the ligand-binding assay for predicting response to adjuvant endocrine therapy in breast cancer. J Clin Oncol 1999;17:1474-81.
18. Osborne CK, Bardou V, Hopp TA, et al. Role of the estrogen receptor coactivator AIB1 (SRC-3) and HER-2/neu in tamoxifen resistance in breast cancer. JNatl Cancer Inst 2003;95:353-61.
19. Brown R, Allred D, Clark G, et al. Prognostic value of Ki-67 compared to S-phase fraction in axillary node- negative breast cancer. Clin Cancer Res 1996;2:585-592.
20. Molina R, Ciocca DR, Tandon AK, et al. Expression of HER-2/neu oncoprotein in human breast cancer: a comparison of immunohistochemical and Western blot techniques. Anticancer Res 1992;12:1965-71.
21. Collett D. Modeling Survival Data in Medical Research. New York: Chapman & Hall; 1994.
22. Hilsenbeck SG, Ravdin PM, de Moor CA, et al. Time-dependence of hazard ratios for prognostic factors in primary breast cancer. Breast Cancer Res Treat 1998;52:227-37.
23. Kronick MN. Heterozygote determination using automated DNA sequencing technology. In: Taylor GR, editor. Laboratory methods for the detection of mutations and polymorphisms in DNA. New York: CRC Press; 1997. p.175-89.
24. Cui Y, Zhang M, Pestell R, et al. Phosphorylation of estrogen receptor a blocks its acetylation and regulates estrogen sensitivity. Cancer Res 2004;64:9199-208.
25. Fuqua SAW. The role of estrogen receptors in breast cancer metastasis. J Mammary Gland Biol Neoplasia 2002;6:407-17.
26. Fuqua SAW, Hopp T, Van M, et al. An estrogen receptor a mutation that predicts metastatic breast cancer clinical behavior. 9th SPORE investigators' workshop 2001;174.
27. Carter C, Allen C, Henson D. Relation of tumor size, lymph node status, and survival in 24,740 breast cancer cases. Cancer 1989;63:181.
28. Wang RA, Mazumdar A, Vadlamudi RK, et al. P21-activated kinase-1 phosphorylates and transactivates estrogen receptor-α and promotes hyperplasia in mammary epithelium. EMBO J 2002;21:5437-47.
29. Lee H, Bai W. Regulation of estrogen receptor nuclear export by ligand-induced and p38-mediated receptor phosphorylation. Mol Cell Biol 2002;22:5835-45.
30. Hull DF, Clark GM, Osborne CK, et al. Multiple estrogen receptor assays in human breast cancer. Cancer Res 1983;43:413-6.
31. Bershtein LM, Alimova IN, Tsyrlina EV, et al. Mammary tumors in HER-2/NEU mice are characterized by low content of estrogen receptors-α and absence of progesterone receptors. Bull Exp Biol Med 2003;135:580-1.
32. Katiyar P, Ma Y, Fan S, et al. Regulation of progesterone receptor signaling by BRCA1 in mammary cancer. Nucl Recept Signal 2006;4:e006.
33. Parker LT, Zakeri H, Deng Q, et al. AmpliTaq DNA polymerase, FS dye-terminator sequencing: analysis of peak height patterns. Biotechniques 1996;21:694-9.
34. Parker LT, Deng Q, Zakeri H, et al. Peak height variations in automated sequencing of PCR products using Taq dye-terminator chemistry. Biotechniques 1995;19:116-21.
35. Lee LG, Connell CR, Woo SL, et al. DNA sequencing with dye-labeled terminators and T7 DNA polymerase: effect of dyes and dNTPs on incorporation of dye-terminators and probability analysis of termination fragments. Nucleic Acids Res 1992;20:2471-83.
36. Conway K, Parrish E, Edmiston SN, et al. The estrogen receptor-α A908G (K303R) mutation occurs at a low frequency in invasive breast tumors: results from a population-based study. Breast Cancer Res 2005;7:R871-80.
37. Stemmermann GN. The pathology of breast cancer in Japanese women compared to other ethnic groups: a review. Breast Cancer Res Treat 1991;18 Suppl 1:S67-72.
38. Deapen D, Liu L, Perkins C, et al. Rapidly rising breast cancer incidence rates among Asian-American women. Int J Cancer 2002;99:747-50.
39. Maskarinec G. Breast cancer - interaction between ethnicity and environment. In Vivo 2000;14:115-23.
40. Elledge RM, Fuqua SAW, Clark GM, et al. Prognostic significance of p53 gene alterations in node-negative breast cancer. Breast Cancer Res Treat 1993;26:225-35.
41. Moul JW, Theune SM, Chang EH. Detection of RAS mutations in archival testicular germ cell tumors by polymerase chain reaction and oligonucleotide hybridization. Genes Chromosomes Cancer 1992;5:109-18.
42. Cotton RG, Rodrigues NR, Campbell RD. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci U S A 1988;85:4397-401.
43. Tolbert DM, Noffsinger AE, Miller MA, et al. p53 immunoreactivity and single-strand conformational polymorphism analysis often fail to predict p53 mutational status. Mod Pathol 1999;12:54-60.
44. Loeb LA. A mutator phenotype in cancer. Cancer Res 2001;61:3230-9.
45. Balasenthil S, Barnes CJ, Rayala SK, et al. Estrogen receptor activation at serine 305 is sufficient to upregulate cyclin D1 in breast cancer cells. FEBS Lett 2004;567:243-7.
46. Michalides R, Griekspoor A, Balkenende A, et al. Tamoxifen resistance by a conformational arrest of the estrogen receptor α after PKA activation in breast cancer. Cancer Cell 2004;5:597-605.