A haplotype analysis of HER-2 gene polymorphisms: Association with breast cancer risk, HER-2 protein expression in the tumor, and disease recurrence in Korea

Clinical Cancer Research

Volumn 11, Issue 13, 2005, Pages 4775-4782

  Han, Wonshik ^a   Kang, Daehee ^a   Lee, Jong Eun ^b   Park, In Ae ^a   Choi, Ji Yeob ^a   Lee, Kyung Mu ^a   Bae, Ji Yeon ^a   Kim, Sook ^b   Shin, Eun Soon ^b   Lee, Jeong Eon ^a   Shin, Hyuk Jae ^a   Kim, Seok Won ^a   Kim, Sung Won ^a   Noh, Dong Young ^a  

^a Seoul National University College of Medicine   (South Korea)

^b DNA Link Inc   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR 2;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER INVASION; CANCER RECURRENCE; CANCER RISK; CODON; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KOREA; MAJOR CLINICAL STUDY; ONCOGENE NEU; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL RATE;

ADULT; ALLELES; BREAST NEOPLASMS; CASE-CONTROL STUDIES; DISEASE-FREE SURVIVAL; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; IMMUNOHISTOCHEMISTRY; KOREA; LINKAGE DISEQUILIBRIUM; LYMPHATIC METASTASIS; MIDDLE AGED; NEOPLASM RECURRENCE, LOCAL; NEOPLASM STAGING; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; RECEPTOR, ERBB-2; RISK FACTORS;

EID: 27644543569     PISSN: 10780432     EISSN: None     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-04-2208     Document Type: Article

References (34)

1. Bargmann CI, Hung MC, Weinberg RA. The neu oncogene encodes an epidermal growth factor receptor-related protein. Nature 1986;319:226-30.
2. Akiyama T, Sudo C, Ogawara H, Toyoshima K, Yamamoto T. The product of the human c-erbB-2 gene: a 185-kilodalton glycoprotein with tyrosine kinase activity. Science 1986;232:1644-6.
3. Slamon DJ, Godolphin W, Jones LA, et al. Studies of the HER-2/neu proto-oncogene in human breast and ovarian cancer. Science 1989;244:707-12.
4. Jardines L, Weiss M, Fowble B, Greene M. neu/c-erbB-2/HER-2 and the epidermal growth factor receptor (EGFR) in breast cancer. Pathobiology 1993;61:268-82.
5. Revillion F, Bonneterre J, Peyrat JP. ERBB2 oncogene in human breast cancer and its clinical significance. Eur J Cancer 1998;34:791-808.
6. Baselga J, Norton L, Albanell J, Kim YM, Mendelsohn J. Recombinant humanized anti-HER2 antibody (Herceptin) enhances the antitumor activity of paclitaxel and doxorubicin against HER2/neu overexpressing human breast cancer xenografts. Cancer Res 1998;58:2825-31.
7. Nabholtz JM, Reese DM, Lindsay MA, Riva A. HER2-positive breast cancer: update on Breast Cancer International Research Group trials. Clin Breast Cancer 2002;3 Suppl 2:375-9.
8. Choi DH, Shin DB, Lee MH, et al. A comparison of five immunohistochemical biomarkers and HER-2/neu gene amplification by fluorescence in situ hybridization in white and Korean patients with early-onset breast carcinoma. Cancer 2003;98:1587-95.
9. Lemoine NR, Staddon S, Dickson C, Barnes DM, Gullick WJ. Absence of activating transmembrane mutations in the c-erbB-2 proto-oncogene in human breast cancer. Oncogene 1990;5:237-9.
10. Papewalis J, Nikitin AYu, Rajewsky MF. G to A polymorphism at amino acid codon 655 of the human erbB-2/HER2 gene. Nucleic Acids Res 1991;19:5452.
11. Xie D, Shu XO, Deng Z, et al. Population-based, case-control study of HER2 genetic polymorphism and breast cancer risk. J Natl Cancer Inst 2000;92:412-7.
12. Baxter SW, Campbell IG. Re: Population-based, case-control study of HER2 genetic polymorphism and breast cancer risk. J Natl Cancer Inst 2001;93:557-9.
13. Keshava C, McCanlies EC, Keshava N, Wolff MS, Weston A. Distribution of HER2(V655) genotypes in breast cancer cases and controls in the United States. Cancer Lett 2001;173:37-41.
14. McKean-Cowdin R, Kolonel LN, Press MF, Pike MC, Henderson BE. Germ-line HER-2 variant and breast cancer risk by stage of disease. Cancer Res 2001;61:8393-4.
15. Wang-Gohrke S, Chang-Claude J. Re: Population-based, case-control study of HER2 genetic polymorphism and breast cancer risk. J Natl Cancer Inst 2001;93:1657-9.
16. Hishida A, Hamajima N, Iwata H, et al. Re: Population-based, case-control study of HER2 genetic polymorphism and breast cancer risk. J Natl Cancer Inst 2002;94:1807-8.
17. Fleishman SJ, Schlessinger J, Ben-Tal N. A putative molecular-activation switch in the transmembrane domain of erbB2. Proc Natl Acad Sci U S A 2002;99:15937-40.
18. Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES. High-resolution haplotype structure in the human genome. Nat Genet 2001;29:229-32.
19. Gabriel SB, Schaffner SF, Nguyen H, et al. The structure of haplotype blocks in the human genome. Science 2002;296:2225-9.
20. Patil N, Berno AJ, Hinds DA, et al. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 2001;294:1719-23.
21. Haiman CA, Stram DO, Pike MC, et al. A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort. Hum Mol Genet 2003;12:2679-92.
22. Hynes NE. Amplification and overexpression of the erbB-2 gene in human tumors: its involvement in tumor development, significance as a prognostic factor, and potential as a target for cancer therapy. Semin Cancer Biol 1993;4:19-26.
23. Yarden Y. Biology of HER2 and its importance in breast cancer. Oncology 2001;61 Suppl 2:1-13.
24. Han W, Kang D, Park IA, et al. Associations between breast cancer susceptibility gene polymorphisms and clinicopathological features. Clin Cancer Res 2004;10:124-30.
25. Qin ZS, Niu T, Liu JS. Partition-ligation-expectation-maximization algorithm for haplotype inference with single-nucleotide polymorphisms. Am J Hum Genet 2002;71:1242-7.
26. Greene FL, Page DL, Fleming ID, et al., editors. AJCC cancer staging manual. 6th ed. New York: Springer; 2002.
27. Choi JY, Abel J, Neuhaus T, et al. Role of alcohol and genetic polymorphisms of CYP2E1 and ALDH2 in breast cancer development. Pharmacogenetics 2003;13:67-72.
28. Shin A, Kang D, Nishio H, et al. Estrogen receptor α gene polymorphisms and breast cancer risk. Breast Cancer Res Treat 2003;80:127-31.
29. Millikan R, Eaton A, Worley K, et al. HER2 codon 655 polymorphism and risk of breast cancer in African Americans and whites. Breast Cancer Res Treat 2003;79:355-64.
30. Dowsett M, Bartlett J, Ellis IO, et al. Correlation between immunohistochemistry (HercepTest) and fluorescence in situ hybridization (FISH) for HER-2 in 426 breast carcinomas from 37 centres. J Pathol 2003;199:418-23.
31. RebbeckTR, Ambrosone CB, Bell DA, et al. SNPs, haplotypes, and cancer: applications in molecular epidemiology. Cancer Epidemiol Biomarkers Prev 2004;13:681-7.
32. Reich DE, Cargill M, Bolk S, et al. Linkage disequilibrium in the human genome. Nature 2001;411:199-204.
33. Bonnen PE, Wang PJ, Kimmel M, Chakraborty R, Nelson DL. Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res 2002;12:1846-53.
34. Zheng W, Kataoka N, Xie D, Young SR. Re: Population-based, case-control study of HER2 genetic polymorphism and breast cancer risk. J Natl Cancer Inst 2001;93:558-9.