Gene References


EDN1 (endothelin 1)

Aggarwal PK, Jain V, Srinivasan R, Jha V. Maternal EDN1 G5665T polymorphism influences circulating endothelin-1 levels and plays a role in determination of preeclampsia phenotype. J Hypertens 2009; 27:2044-50.

Ahn D, Ge Y, Stricklett PK et al. Collecting duct-specific knockout of endothelin-1 causes hypertension and sodium retention. J Clin Invest 2004; 114:504-11.

Arinami T, Ishikawa M, Inoue A et al. Chromosomal assignments of the human endothelin family genes: the endothelin-1 gene (EDN1) to 6p23-p24, the endothelin-2 gene (EDN2) to 1p34, and the endothelin-3 gene (EDN3) to 20q13. 2-q13. 3. Am J Hum Genet 1991; 48:990-6.

Campia U, Cardillo C, Panza JA. Ethnic differences in the vasoconstrictor activity of endogenous endothelin-1 in hypertensive patients. Circulation 2004; 109:3191-5.

Geese WJ, Achanzar W, Rubin C et al. Genetic and gene expression studies implicate renin and endothelin-1 in edema caused by peroxisome proliferator-activated receptor gamma agonists. Pharmacogenet Genomics 2008; 18:903-10.

Hallberg P, Karlsson J, Lind L et al. Gender-specific association between preproendothelin-1 genotype and reduction of systolic blood pressure during antihypertensive treatment-results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA). Clin Cardiol 2004; 27:287-90.

Iglarz M, Benessiano J, Philip I et al. Preproendothelin-1 gene polymorphism is related to a change in vascular reactivity in the human mammary artery in vitro. Hypertension 2002; 39:209-13.

Kirshbom PM, Mahle WT, Joyner RW et al. The endothelin-1 G5665T polymorphism impacts transplant-free survival for single ventricle patients. J Thorac Cardiovasc Surg 2008; 136:117-22.

Montasser ME, Shimmin LC, Gu D et al. Blood pressure response to potassium supplementation is associated with genetic variation in endothelin 1 and interactions with E selectin in rural Chinese. J Hypertens 2010; 28:748-55.

Morita H, Kurihara H, Kurihara Y et al. Responses of blood pressure and catecholamine metabolism to high salt loading in endothelin-1 knockout mice. Hypertens Res 1999; 22:11-6.

Pare C, Serre D, Brisson D et al. Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. Am J Hum Genet 2007; 80:673-82.

Taylor MR, Slavov D, Humphrey K et al. Pharmacogenetic effect of an endothelin-1 haplotype on response to bucindolol therapy in chronic heart failure. Pharmacogenet Genomics 2009; 19:35-43.

Wiltshire S, Powell BL, Jennens M et al. Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease. Hum Genet 2008; 123:307-13.

EDNRA (endothelin receptor type A)

Barst RJ. Sitaxsentan: a selective endothelin-A receptor antagonist, for the treatment of pulmonary arterial hypertension. Expert Opin Pharmacother 2007; 8:95-109.

Buck D, Diefenbach K, Penzel T, Malzahn U, Roots I, Fietze I. Genetic polymorphisms in endothelin-receptor-subtype-a-gene as susceptibility factor for obstructive sleep apnea syndrome. Sleep Med 2010; 11:213-7.

Darrah R, McKone E, O’Connor C et al. EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity. Physiol Genomics 2010; 41:71-7.

Tikka-Kleemola P, Kaunisto MA, Hämäläinen E et al. Genetic association study of endothelin-1 and its receptors EDNRA and EDNRB in migraine with aura. Cephalalgia 2009; 29:1224-31.

Tzourio C, El Amrani M, Poirier O, Nicaud V, Bousser MG, Alpérovitch A. Association between migraine and endothelin type A receptor (ETA -231 A/G) gene polymorphism. Neurology 2001; 56:1273-7.

Yasuda H, Kamide K, Takiuchi S et al. Association of single nucleotide polymorphisms in endothelin family genes with the progression of atherosclerosis in patients with essential hypertension. J Hum Hypertens 2007; 21:883-92.

EGFR (epidermal growth factor receptor)

Avizienyte E, Ward RA, Garner AP. Comparison of the EGFR resistance mutation profiles generated by EGFR-targeted tyrosine kinase inhibitors and the impact of drug combinations. Biochem J 2008; 415:197-206.

Bax DA, Gaspar N, Little SE et al. EGFRvIII deletion mutations in pediatric high-grade glioma and response to targeted therapy in pediatric glioma cell lines. Clin Cancer Res 2009; 15:5753-61.

Bell DW, Gore I, Okimoto RA et al. Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. Nat Genet 2005; 37:1315-6.

Chen B, Bronson RT, Klaman LD et al. Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 2000; 24:296-9.

Choura M, Frikha F, Kharrat N, Aifa S, Rebaï A. Investigating the function of three non-synonymous SNPs in EGFR gene: structural modelling and association with breast cancer. Protein J 2010; 29:50-4.

Correale P, Marra M, Remondo C et al. Cytotoxic drugs up-regulate epidermal growth factor receptor (EGFR) expression in colon cancer cells and enhance their susceptibility to EGFR-targeted antibody-dependent cell-mediated-cytotoxicity (ADCC). Eur J Cancer 2010; 46:1703-11.

Engelman JA, Zejnullahu K, Mitsudomi T et al. MET amplification leads to gefitinib resistance in lung cancer by activating ERBB3 signaling. Science 2007; 316:1039-43.

Farabegoli F, Papi A, Orlandi M. (-)-Epigallocatechin-3-gallate downregulates EGFR, MMP-2, MMP-9 EMMPRIN and inhibits the invasion of MCF-7 tamoxifen resistant cells. Biosci Rep 2010; 31:99-108.

Farnebo L, Jedlinski A, Ansell A et al. Proteins and single nucleotide polymorphisms involved in apoptosis, growth control, and DNA repair predict cisplatin sensitivity in head and neck cancer cell lines. Int J Mol Med 2009; 24:549-56.

Gan HK, Kaye AH, Luwor RB. The EGFRvIII variant in glioblastoma multiforme. J Clin Neurosci 2009; 16:748-54.

Gao LB, Zhou B, Zhang L et al. R497K polymorphism in epidermal growth factor receptor gene is associated with the risk of acute coronary syndrome. BMC Med Genet 2008; 9:74.

Gao SP, Mark KG, Leslie K et al. Mutations in the EGFR kinase domain mediate STAT3 activation via IL-6 production in human lung adenocarcinomas. J Clin Invest 2007; 117:3846-56.

Gazdar AF. Activating and resistance mutations of EGFR in non-small-cell lung cancer: role in clinical response to EGFR tyrosine kinase inhibitors. Oncogene 2009; 28 Suppl 1:24-31.

Han SW, Oh DY, Im SA et al. Epidermal growth factor receptor intron 1 CA dinucleotide repeat polymorphism and survival of advanced gastric cancer patients treated with cetuximab plus modified FOLFOX6. Cancer Sci 2010; 101:793-9.

Hirsch FR, Herbst RS, Olsen C et al. Increased EGFR gene copy number detected by fluorescent in situ hybridization predicts outcome in non-small-cell lung cancer patients treated with cetuximab and chemotherapy. J Clin Oncol 2008; 26:3351-7.

Kobayashi S, Boggon TJ, Dayaram T et al. EGFR mutation and resistance of non-small-cell lung cancer to gefitinib. New Eng J Med 2005; 352:786-92.

Langerak A, River G, Mitchell E, Cheema P, Shing M. Panitumumab monotherapy in patients with metastatic colorectal cancer and cetuximab infusion reactions: a series of four case reports. Clin Colorectal Cancer 2009; 8:49-54.

Liu G, Gurubhagavatula S, Zhou W et al. Epidermal growth factor receptor polymorphisms and clinical outcomes in non-small-cell lung cancer patients treated with gefitinib. Pharmacogenomics J 2008; 8:129-38.

Liu W, He L, Ramirez J et al. Functional EGFR germline polymorphisms may confer risk for EGFR somatic mutations in non-small cell lung cancer, with a predominant effect on exon 19 microdeletions. Cancer Res 2011; 71:2423-7.

Ma F, Sun T, Shi Y et al. Polymorphisms of EGFR predict clinical outcome in advanced non-small-cell lung cancer patients treated with Gefitinib. Lung Cancer 2009; 66:114-9.

Mandic R, Rodgarkia-Dara CJ, Krohn V, Wiegand S, Grénman R, Werner JA. Cisplatin resistance of the HNSCC cell line UT-SCC-26A can be overcome by stimulation of the EGF-receptor. Anticancer Res 2009; 29:1181-7.

Milligan SA, Burke P, Coleman DT et al. The green tea polyphenol EGCG potentiates the antiproliferative activity of c-Met and epidermal growth factor receptor inhibitors in non-small cell lung cancer cells. Clin Cancer Res 2009; 15:4885-94.

Mok TS, Wu YL, Thongprasert S et al. Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma. N Engl J Med 2009; 361:947-57.

Nomura M, Shigematsu H, Li L et al. Polymorphisms, mutations, and amplification of the EGFR gene in non-small cell lung cancers. PLoS Med 2007. doi:10. 1371/journal. pmed. 0040125.

Paez JG, Janne PA, Lee JC et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 2004; 304:1497-500.

Perez CA, Chen H, Shyr Y et al. The EGFR polymorphism rs884419 is associated with freedom from recurrence in patients with resected prostate cancer. J Urol 2010; 183:2062-9.

Petrelli F, Cabiddu M, Ghilardi M, Barni S. Current data of targeted therapies for the treatment of triple-negative advanced breast cancer: empiricism or evidence-based? Expert Opin Investig Drugs 2009; 18:1467-77.

Puyo S, Le Morvan V, Robert J. Impact of EGFR gene polymorphisms on anticancer drug cytotoxicity in vitro. Mol Diagn Ther 2008; 12:225-34.

Ramnarain DB, Park S, Lee DY et al. Differential gene expression analysis reveals generation of an autocrine loop by a mutant epidermal growth factor receptor in glioma cells. Cancer Res 2006; 66:867-74.

Rebaï M, Kallel I, Hamza F et al. Association of EGFR and HER2 polymorphisms with risk and clinical features of thyroid cancer. Genet Test Mol Biomarkers 2009; 13:779-84.

Rosell R, Moran T, Queralt C et al. Screening for epidermal growth factor receptor mutations in lung cancer. N Engl J Med 2009; 361:958-67.

Sequist LV, Martins RG, Spigel D et al. First-line gefitinib in patients with advanced non-small-cell lung cancer harboring somatic EGFR mutations. J Clin Oncol 2008; 26:2442-9.

Tzaida O, Gogas H, Dafni U et al. Evaluation of the prognostic and predictive value of HER-1/EGFR in breast cancer patients participating in a randomized study with dose-dense sequential adjuvant chemotherapy. Oncology 2007; 72:388-96.

Yang SY, Yang TY, Chen KC et al. EGFR L858R Mutation and polymorphisms of genes related to estrogen biosynthesis and metabolism in never-smoking female lung adenocarcinoma patients. Clin Cancer Res 2011; 17:2149-58.

Zhang X, Pickin KA, Bose R, Jura N, Cole PA, Kuriyan J. Inhibition of the EGF receptor by binding of MIG6 to an activating kinase domain interface. Nature 2007; 450:741-4.

EPHX1 (epoxide hydrolase 1, microsomal (xenobiotic))

Ai D, Pang W, Li N et al. Soluble epoxide hydrolase plays an essential role in angiotensin II-induced cardiac hypertrophy. Proc Natl Acad Sci USA 2009; 106:564-9.

Azzato EM, Chen RA, Wacholder S, Chanock SJ, Klebanoff MA, Caporaso NE. Maternal EPHX1 polymorphisms and risk of phenytoin-induced congenital malformations. Pharmacogenet Genomics 2010; 20:58-63.

Bohan KH, Mansuri TF, Wilson NM. Anticonvulsant hypersensitivity syndrome: implications for pharmaceutical care. Pharmacotherapy 2007; 27:1425-39.

Buehler BA, Delimont D, van Waes M, Finnell RH. Prenatal prediction of risk of the fetal hydantoin syndrome. N Engl J Med 1990; 322:1567-72.

Chauhan PS, Ihsan R, Yadav DS et al. Association of glutathione S-transferase, EPHX, and p53 codon 72 gene polymorphisms with adult acute myeloid leukemia. DNA Cell Biol 2011; 30:39-46.

Cooper GM, Johnson JA, Langaee TY et al. A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. Blood 2008; 112:1022-7.

Hoet P, de Smedt E, Ferrari M et al. Evaluation of urinary biomarkers of exposure to benzene: correlation with blood benzene and influence of confounding factors. Int Arch Occup Environ Health 2009; 82:985-95.

Kiyohara C, Yoshimasu K, Takayama K, Nakanishi Y. EPHX1 polymorphisms and the risk of lung cancer: a HuGE review. Epidemiology 2006; 17:89-99.

Korhonen S, Romppanen EL, Hiltunen M et al. Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are associated with polycystic ovary syndrome. Fertil Steril 2003; 79:1353-7.

Krynetskiy E, McDonnell P. Building individualized medicine: prevention of adverse reactions to warfarin therapy. J Pharmacol Exp Ther 2007; 322:427-34.

Liang SH, Hassett C, Omiecinski CJ. Alternative promoters determine tissue-specific expression profiles of the human microsomal epoxide hydrolase gene (EPHX1). Mol Pharmacol 2005; 67:220-30.

Loebstein R, Vecsler M, Kurnik D et al. Common genetic variants of microsomal epoxide hydrolase affect warfarin dose requirements beyond the effect of cytochrome P450 2C9. Clin Pharmacol Ther 2005; 77:365-72.

Nakajima Y, Saito Y, Shiseki K et al. Haplotype structures of EPHX1 and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients. Eur J Clin Pharmacol 2005; 61:25-34.

Pande M, Amos CI, Eng C, Frazier ML. Interactions between cigarette smoking and selected polymorphisms in xenobiotic metabolizing enzymes in risk for colorectal cancer: A case-only analysis. Mol Carcinog 2010; 49:974-80.

Pautas E, Moreau C, Gouin-Thibault I et al. Genetic factors (VKORC1, CYP2C9, EPHX1, and CYP4F2) are predictor variables for warfarin response in very elderly, frail inpatients. Clin Pharmacol Ther 2010; 87:57-64.

Qian J, Zhang ZB, Wan JX et al. Polymorphisms in phase I and phase II metabolism genes and risk of chronic benzene poisoning in a Chinese occupational population. Carcinogenesis 2008; 29:2325-9.

Smith CA, Harrison DJ. Association between polymorphism in gene for microsomal epoxide hydrolase and susceptibility to emphysema. Lancet 1997; 350:630-3.

Soucek P, Sarmanová J, Kristensen VN, Apltauerová M, Gut I. Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin’s and non-Hodgkin’s lymphomas. Int Arch Occup Environ Health 2002; 75 Suppl:86-92.

Vecsler M, Loebstein R, Almog S et al. Combined genetic profiles of components and regulators of the vitamin K-dependent gamma-carboxylation system affect individual sensitivity to warfarin. Thromb Haemost 2006; 95:205-11.

Wadelius M, Chen LY, Eriksson N et al. Association of warfarin dose with genes involved in its action and metabolism. Hum Genet 2007; 121:23-34.

Zhu QS, Xing W, Qian B et al. Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia. Biochim Biophys Acta 2003; 1638:208-16.

Zusterzeel PL, Peters WH, Visser W, Hermsen KJ, Roelofs HM, Steegers EA. A polymorphism in the gene for microsomal epoxide hydrolase is associated with pre-eclampsia. J Med Genet 2001; 38:234-7.

ERAP1 (endoplasmic reticulum aminopeptidase 1)

Goto Y, Hattori A, Ishii Y, Tsujimoto M. Reduced activity of the hypertension-associated Lys528Arg mutant of human adipocyte-derived leucine aminopeptidase (A-LAP)/ER-aminopeptidase-1. FEBS 2006; 580:1833-8.

Goto Y, Hattori A, Mizutani S, Tsujimoto M. Asparatic acid 221 is critical in the calcium-induced modulation of the enzymatic activity of human aminopeptidase A. J Biol Chem 2007; 282:37074-81.

Hallberg P, Lind L, Michaëlsson K et al. Adipocyte-derived leucine aminopeptidase genotype and response to antihypertensive therapy. BMC Cardiovasc Disord 2003; 3:11.

Mehta AM, Jordanova ES, Corver WE et al. Single nucleotide polymorphisms in antigen processing machinery component ERAP1 significantly associate with clinical outcome in cervical carcinoma. Genes Chromosomes Cancer 2009; 48:410-8.

Mehta AM, Jordanova ES, Kenter GG, Ferrone S, Fleuren GJ. Association of antigen processing machinery and HLA class I defects with clinicopathological outcome in cervical carcinoma. Cancer Immunol Immunother 2008; 57:197-206.

Mehta AM, Jordanova ES, van Wezel T et al. Genetic variation of antigen processing machinery components and association with cervical carcinoma. Genes Chromosomes Cancer 2007; 46:577-86.

Mitsui T, Nomura S, Itakura A, Mizutani S. Role of aminopeptidases in the blood pressure regulation. Biol Pharm Bull 2004; 27:768-71.

Mizutani S, Ishii M, Hattori A et al. New insights into the importance of aminopeptidase A in hypertension. Heart Fail Rev 2008; 13:273-84.

Ramírez M, Prieto I, Alba F, Vives F, Banegas I, de Gasparo M. Role of central and peripheral aminopeptidase activities in the control of blood pressure: a working hypothesis. Heart Fail Rev 2008; 13:339-53.

Reaux A, Iturrioz X, Vazeux G et al. Aminopeptidase A, which generates one of the main effector peptides of the brain renin-angiotensin system, angiotensin III, has a key role in central control of arterial blood pressure. Biochem Soc Trans 2000; 28:435-40.

Rozenfeld R, Reaux A, Iturrioz X et al. Aminopeptidase A, generating one of the main effector peptides of the brain renin-angiotensin system, angiotensin III, plays a key role in central control of blood pressure. Proc West Pharmacol Soc 2003; 46:39-44.

Tsujimoto M, Goto Y, Maruyama M, Hattori A. Biochemical and enzymatic properties of the M1 family of aminopeptidases involved in the regulation of blood pressure. Heart Fail Rev 2008; 13:285-91.

Yamamoto N, Nakayama J, Yamakawa-Kobayashi K, Hamaguchi H, Miyazaki R, Arinami T. Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase (ALAP) gene and possible association with hypertension. Hum Mutat 2002; 19:251-7.

ERBB2 (v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian))

Bartsch R, Wenzel C, Zielinski CC, Steger GG. HER-2-positive breast cancer: hope beyond trastuzumab. BioDrugs 2007; 21:69-77.

Beauclair S, Formento P, Fischel JL et al. Role of the HER2 [Ile655Val] genetic polymorphism in tumorogenesis and in the risk of trastuzumab-related cardiotoxicity. Ann Oncol 2007; 18:1335-41.

Benusiglio PR, Lesueur F, Luccarini C et al. Common ERBB2 polymorphisms and risk of breast cancer in a white British population: a case-control study. Breast Cancer Res 2005; 7:204-9.

Chowdhury S, Pickering L, Ellis P. Controversies in the use of adjuvant trastuzumab (Herceptin). J Br Menopause Soc 2006; 12:172-4.

de Placido S, Carlomagno C, de Laurentiis M, Bianco AR. c-erbB2 expression predicts tamoxifen efficacy in breast cancer patients. Breast Cancer Res Treat 1998; 52:55-64.

Gilmer TM, Cable L, Alligood K et al. Impact of common epidermal growth factor receptor and HER2 variants on receptor activity and inhibition by lapatinib. Cancer Res 2008; 68:571-9.

Hayes DF, Thor AD, Dressler LG et al. HER2 and response to paclitaxel in node-positive breast cancer. N Engl J Med 2007; 357:1496-506.

Hudis CA. Trastuzumab mechanism of action and use in clinical practice. N Engl J Med 2007; 357:39-51.

Jackson-Fisher AJ, Bellinger G, Ramabhadran R, Morris JK, Lee KF, Stern DF. ErbB2 is required for ductal morphogenesis of the mammary gland. Proc Natl Acad Sci USA 2004; 101:17138-43.

Konecny GE, Thomssen C, Lück HJ et al. Her-2/neu gene amplification and response to paclitaxel in patients with metastatic breast cancer. J Natl Cancer Inst 2004; 96:1141-51.

Kroese M, Zimmern RL, Pinder SE. HER2 status in breast cancer-an example of pharmacogenetic testing. J R Soc Med 2007; 100:326-9.

Kruszyna Ł, Lianeri M, Roszak A, Jagodziński PP. HER2 codon 655 polymorphism is associated with advanced uterine cervical carcinoma. Clin Biochem 2010; 43:545-8.

Marx AH, Tharun L, Muth J et al. HER-2 amplification is highly homogenous in gastric cancer. Hum Pathol 2009; 40:769-77.

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.

Oakman C, Moretti E, Galardi F, Santarpia L, di Leo A. The role of topoisomerase IIalpha and HER-2 in predicting sensitivity to anthracyclines in breast cancer patients. Cancer Treat Rev 2009; 35:662-7.

Piccart M, Lohrisch C, Di Leo A, Larsimont D. The predictive value of HER2 in breast cancer. Oncology 2001; 61 Suppl 2:73-82.

Pinto D, Pereira D, Portela C, da Silva JL, Lopes C, Medeiros R. The influence of HER2 genotypes as molecular markers in ovarian cancer outcome. Biochem Biophys Res Commun 2005; 335:1173-8.

Pruthi S, Boughey JC, Brandt KR et al. A multidisciplinary approach to the management of breast cancer, part 2: therapeutic considerations. Mayo Clin Proc 2007; 82:1131-40.

Rastelli F, Crispino S. Factors predictive of response to hormone therapy in breast cancer. Tumori 2008; 94:370-83.

Rebaï M, Kallel I, Hamza F et al. Association of EGFR and HER2 polymorphisms with risk and clinical features of thyroid cancer. Genet Test Mol Biomarkers 2009; 13:779-84.

Tvorogov D, Sundvall M, Kurppa K et al. Somatic mutations of ErbB4: selective loss-of-function phenotype affecting signal transduction pathways in cancer. J Biol Chem 2009; 284:5582-91.

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.

Yu D. Mechanisms of ErbB2-mediated paclitaxel resistance and trastuzumab-mediated paclitaxel sensitization in ErbB2-overexpressing breast cancers. Semin Oncol 2001; 28(5 Suppl 16):12-7.

Yu D, Jing T, Liu B et al. Overexpression of ErbB2 blocks Taxol-induced apoptosis by upregulation of p21Cip1, which inhibits p34Cdc2 kinase. Mol Cell 1998; 2:581-91.

Yu D, Liu B, Jing T et al. Overexpression of both p185c-erbB2 and p170mdr-1 renders breast cancer cells highly resistant to taxol. Oncogene 1998; 16:2087-94.

ERBB4 (v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian))

Abe Y, Namba H, Zheng Y, Nawa H. In situ hybridization reveals developmental regulation of ErbB1-4 mRNA expression in mouse midbrain: implication of ErbB receptors for dopaminergic neurons. Neuroscience 2009; 161:95-110.

Chuu CP, Chen RY, Barkinge JL, Ciaccio MF, Jones RB. Systems-level analysis of ErbB4 signaling in breast cancer: a laboratory to clinical perspective. Mol Cancer Res 2008; 6:885-91.

Ding L, Getz G, Wheeler DA et al. Somatic mutations affect key pathways in lung adenocarcinoma. Nature 2008; 455:1069-75.

Hudis CA. Trastuzumab mechanism of action and use in clinical practice. N Engl J Med 2007; 357:39-51.

Karamouzis MV, Badra FA, Papavassiliou AG. Breast cancer: the upgraded role of HER-3 and HER-4. Int J Biochem Cell Biol 2007; 39:851-6.

Law AJ, Kleinman JE, Weinberger DR, Weickert CS. Disease-associated intronic variants in the ErbB4 gene are related to altered ErbB4 splice-variant expression in the brain in schizophrenia. Hum Mol Genet 2007; 16:129-41.

Lu CL, Wang YC, Chen JY, Lai IC, Liou YJ. Support for the involvement of the ERBB4 gene in schizophrenia: a genetic association analysis. Neurosci Lett 2010; 481:120-5.

Memon AA, Sorensen BS, Melgard P, Fokdal L, Thykjaer T, Nexo E. Expression of HER3, HER4 and their ligand heregulin-4 is associated with better survival in bladder cancer patients. Br J Cancer 2004; 91:2034-41.

Memon AA, Sorensen BS, Meldgaard P, Fokdal L, Thykjaer T, Nexo E. The relation between survival and expression of HER1 and HER2 depends on the expression of HER3 and HER4: a study in bladder cancer patients. Br J Cancer 2006; 94:1703-9.

Muraoka-Cook RS, Feng SM, Strunk KE, Earp HS 3rd. ErbB4/HER4: role in mammary gland development, differentiation and growth inhibition. J Mammary Gland Biol Neoplasia 2008; 13:235-46.

Neddens J, Buonanno A. Selective populations of hippocampal interneurons express ErbB4 and their number and distribution is altered in ErbB4 knockout mice. Hippocampus 2010; 20:724-44.

Norton N, Moskvina V, Morris DW et al. Evidence that interaction between neuregulin 1 and its receptor erbB4 increases susceptibility to schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2006; 141:96-101.

Paatero I, Elenius K. ErbB4 and its isoforms: patentable drug targets? Recent Pat DNA Gene Seq 2008; 2:27-33.

Prickett TD, Agrawal NS, Wei X et al. Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4. Nat Genet 2009; 41:1127-32.

Sassen A, Diermeier-Daucher S, Sieben M et al. Presence of HER4 associates with increased sensitivity to Herceptin in patients with metastatic breast cancer. Breast Cancer Res 2009; 11:50.

Silberberg G, Darvasi A, Pinkas-Kramarski R, Navon R. The involvement of ErbB4 with schizophrenia: association and expression studies. Am J Med Genet B Neuropsychiatr Genet 2006; 141:142-8.

Sundvall M, Iljin K, Kilpinen S, Sara H, Kallioniemi OP, Elenius K. Role of ErbB4 in breast cancer. J Mammary Gland Biol Neoplasia 2008; 13:259-68.

Tidcombe H, Jackson-Fisher A, Mathers K, Stern DF, Gassmann M, Golding JP. Neural and mammary gland defects in ErbB4 knockout mice genetically rescued from embryonic lethality. Proc Natl Acad Sci USA 2003; 100:8281-6.

Tvorogov D, Sundvall M, Kurppa K et al. Somatic mutations of ErbB4: selective loss-of-function phenotype affecting signal transduction pathways in cancer. J Biol Chem 2009; 284:5582-91.

ERCC1 (excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence))

Andrew AS, Burgess JL, Meza MM et al. Arsenic exposure is associated with decreased DNA repair in vitro and in individuals exposed to drinking water arsenic. Environ Health Perspect 2006; 114:1193-8.

Bepler G. Phase II pharmacogenomics-based adjuvant therapy trial in patients with non-small-cell lung cancer: Southwest Oncology Group Trial 0720. Clin Lung Cancer 2007; 8:509-11.

Bradbury PA, Kulke MH, Heist RS et al. Cisplatin pharmacogenetics, DNA repair polymorphisms, and esophageal cancer outcomes. Pharmacogenet Genomics 2009; 19:613-25.

de Waard MC, van der Pluijm I, Zuiderveen Borgesius N et al. Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice. Acta Neuropathol 2010; 120:461-75.

Henriette Tanja L, Guchelaar HJ, Gelderblom H. Pharmacogenetics in chemotherapy of colorectal cancer. Best Pract Res Clin Gastroenterol 2009; 23:257-73.

Jaspers NG, Raams A, Silengo MC et al. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am J Hum Genet 2007; 80:457-66.

Kalikaki A, Kanaki M, Vassalou H et al. DNA repair gene polymorphisms predict favorable clinical outcome in advanced non-small-cell lung cancer. Clin Lung Cancer 2009; 10:118-23.

Khrunin AV, Moisseev A, Gorbunova V, Limborska S. Genetic polymorphisms and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patients. Pharmacogenomics J 2010; 10:54-61.

Kirschner K, Singh R, Prost S, Melton DW. Characterisation of Ercc1 deficiency in the liver and in conditional Ercc1-deficient primary hepatocytes in vitro. DNA Repair 2007; 6:304-16.

Koeppel F, Poindessous V, Lazar V, Raymond E, Sarasin A, Larsen AK. Irofulven cytotoxicity depends on transcription-coupled nucleotide excision repair and is correlated with XPG expression in solid tumor cells. Clin Cancer Res 2004; 10:5604-13.

Lentz F, Tran A, Rey E, Pons G, Tréluyer JM. Pharmacogenomics of fluorouracil, irinotecan, and oxaliplatin in hepatic metastases of colorectal cancer: clinical implications. Am J Pharmacogenomics 2005; 5:21-33.

Mo J, Xia Y, Ning Z, Wade TJ, Mumford JL. Elevated ERCC1 gene expression in blood cells associated with exposure to arsenic from drinking water in Inner Mongolia. Anticancer Res 2009; 29:3253-9.

Paré L, Marcuello E, Altés A et al. Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving oxaliplatin/5-fluorouracil as first-line chemotherapy. Br J Cancer 2008; 99:1050-5.

Smith S, Su D, Rigault de la Longrais IA et al. ERCC1 genotype and phenotype in epithelial ovarian cancer identify patients likely to benefit from paclitaxel treatment in addition to platinum-based therapy. J Clin Oncol 2007; 25:5172-9.

Winter AG, Dorgan C, Melton DW. Expression of a splicing variant in the 5’-UTR of the human ERCC1 gene is not cancer related. Oncogene 2005; 24:2110-3.

ERCC2 (excision repair cross-complementing rodent repair deficiency, complementation group 2)

Angelini S, Kumar R, Carbone F et al. Inherited susceptibility to bleomycin-induced micronuclei: correlating polymorphisms in GSTT1, GSTM1 and DNA repair genes with mutagen sensitivity. Mutat Res 2008; 638:90-7.

Applebaum KM, Karagas MR, Hunter DJ et al. Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire. Environ Health Perspect 2007; 115:1231-6.

Baccarelli A, Calista D, Minghetti P et al. XPD gene polymorphism and host characteristics in the association with cutaneous malignant melanoma risk. Br J Cancer 2004; 90:497-502.

Benhamou S, Sarasin A. ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis 2002; 17:463-9.

Benhamou S, Sarasin A. ERCC2 /XPD gene polymorphisms and lung cancer: a HuGE review. Am J Epidemiol 2005; 161:1-14.

Berneburg M, Lehmann AR. Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription. Adv Genet 2001; 43:71-102.

Caronia D, Patiño-García A, Milne RL et al. Common variations in ERCC2 are associated with response to cisplatin chemotherapy and clinical outcome in osteosarcoma patients. Pharmacogenomics J 2009; 9:347-53.

Graham JM Jr, Anyane-Yeboa K, Raams A et al. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet 2001; 69:291-300.

Han J, Colditz GA, Liu JS, Hunter DJ. Genetic variation in XPD, sun exposure, and risk of skin cancer. Cancer Epidemiol Biomarkers Prev 2005; 14:1539-44.

Huang HL, Xu JN, Wang QK et al. Association between polymorphisms of XPD gene and susceptibility to chronic benzene poisoning. Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2006; 24:390-3.

Huang MY, Fang WY, Lee SC, Cheng TL, Wang JY, Lin SR. ERCC2 2251A>C genetic polymorphism was highly correlated with early relapse in high-risk stage II and stage III colorectal cancer patients: a preliminary study. BMC Cancer 2008; 8:50.

le Morvan V, Bellott R, Moisan F, Mathoulin-Pélissier S, Bonnet J, Robert J. Relationships between genetic polymorphisms and anticancer drug cytotoxicity vis-à-vis the NCI-60 panel. Pharmacogenomics 2006; 7:843-52.

le Morvan V, Smith D, Laurand A et al. Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patients: relationships with treatment outcome. Pharmacogenomics 2007; 8:1693-703.

Lin GF, Du H, Chen JG et al. Association of XPD/ERCC2 G23591A and A35931C polymorphisms with skin lesion prevalence in a multiethnic, arseniasis-hyperendemic village exposed to indoor combustion of high arsenic coal. Arch Toxicol 2010; 84:17-24.

Marsh S, Paul J, King CR, Gifford G, McLeod HL, Brown R. Pharmacogenetic assessment of toxicity and outcome after platinum plus taxane chemotherapy in ovarian cancer: the Scottish Randomised Trial in Ovarian Cancer. J Clin Oncol 2007; 25:4528-35.

Park DJ, Lenz HJ. Determinants of chemosensitivity in gastric cancer. Curr Opin Pharmacol 2006; 6:337-44.

Park DJ, Stoehlmacher J, Zhang W, Tsao-Wei DD, Groshen S, Lenz HJ. A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer. Cancer Res 2001; 61:8654-8.

Pillot GA, Read WL, Hennenfent KL et al. A phase II study of irinotecan and carboplatin in advanced non-small cell lung cancer with pharmacogenomic analysis: final report. J Thorac Oncol 2006; 1:972-8.

Rosell R, Taron M, Camps C, López-Vivanco G. Influence of genetic markers on survival in non-small cell lung cancer. Drugs Today 2003; 39:775-86.

Skjelbred CF, Svendsen M, Haugan V et al. Influence of DNA repair gene polymorphisms of hOGG1, XRCC1, XRCC3, ERCC2 and the folate metabolism gene MTHFR on chromosomal aberration frequencies. Mutat Res 2006; 602:151-62.

ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)

Colella S, Nardo T, Mallery D et al. Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. Hum Mol Genet 1999; 8:935-41.

Falik-Zaccai TC, Laskar M, Kfir N, Nasser W, Slor H, Khayat M. Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. Am J Med Genet A 2008; 146:1423-9.

Fujiwara Y, Ichihashi M, Kano Y, Goto K, Shimizu K. A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. J Invest Dermatol 1981; 77:256-63.

Gu J, Zhao H, Dinney CP et al. Nucleotide excision repair gene polymorphisms and recurrence after treatment for superficial bladder cancer. Clin Cancer Res 2005; 11:1408-15.

Horibata K, Iwamoto Y, Kuraoka I et al. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci USA 2004; 101:15410-5.

Johnson DC, Corthals S, Ramos C et al. Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping. Blood 2008; 112:4924-34.

Laugel V, Dalloz C, Tobias ES et al. Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. J Med Genet 2008; 45:564-71.

Lin Z, Zhang X, Tuo J et al. A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer. Hum Mutat 2008; 29:113-22.

Ma H, Hu Z, Wang H et al. ERCC6/CSB gene polymorphisms and lung cancer risk. Cancer Lett 2009; 273:172-6.

Mallery DL, Tanganelli B, Colella S et al. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 1998; 62:77-85.

Stevnsner T, Muftuoglu M, Aamann MD, Bohr VA. The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging. Mech Ageing Dev 2008; 129:441-8.

Tuo J, Ning B, Bojanowski CM et al. Synergic effect of polymorphisms in ERCC6 5’ flanking region and complement factor H on age-related macular degeneration predisposition. Proc Natl Acad Sci USA 2006; 103:9256-61.

ESR1 (estrogen receptor 1)

Altmäe S, Haller K, Peters M et al. Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization. Mol Hum Reprod 2007; 13:521-6.

Boada M, Antunez C, López-Arrieta J et al. Estrogen receptor alpha gene variants are associated with Alzheimer’s disease. Neurobiol Aging 2010. doi:10. 1016/j. neurobiolaging. 2010. 06. 016.

Bynoté KK, Hackenberg JM, Korach KS, Lubahn DB, Lane PH, Gould KA. Estrogen receptor-alpha deficiency attenuates autoimmune disease in (NZB x NZW)F1 mice. Genes Immun 2008; 9:137-52.

Colson NJ, Lea RA, Quinlan S, Griffiths LR. No role for estrogen receptor 1 gene intron 1 Pvu II and exon 4 C325G polymorphisms in migraine susceptibility. BMC Med Genet 2006; 7:12.

Dahlman I, Vaxillaire M, Nilsson M et al. Estrogen receptor alpha gene variants associate with type 2 diabetes and fasting plasma glucose. Pharmacogenet Genomics 2008; 18:967-75.

Deng G, Zhou G, Zhai Y et al. Association of estrogen receptor alpha polymorphisms with susceptibility to chronic hepatitis B virus infection. Hepatology 2004; 40:318-26.

Dijkstra A, Howard TD, Vonk JM et al. Estrogen receptor 1 polymorphisms are associated with airway hyperresponsiveness and lung function decline, particularly in female subjects with asthma. J Allergy Clin Immunol 2006; 117:604-11.

Dziedziejko V, Kurzawski M, Safranow K, Chlubek D, Pawlik A. The effect of ESR1 and ESR2 gene polymorphisms on the outcome of rheumatoid arthritis treatment with leflunomide. Pharmacogenomics 2010; 12:41-7.

Einarsdóttir K, Darabi H, Li Y et al. ESR1 and EGF genetic variation in relation to breast cancer risk and survival. Breast Cancer Res 2008; 10:15.

Fox CS, Yang Q, Cupples LA et al. Sex-specific association between estrogen receptor-alpha gene variation and measures of adiposity: the Framingham Heart Study. J Clin Endocrinol Metab 2005; 90:6257-62.

Gallagher CJ, Keene KL, Mychaleckyj JC et al. Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations. Diabetes 2007; 56:675-84.

Greendale GA, Chu J, Ferrell R, Randolph JF Jr, Johnston JM, Sowers MR. The association of bone mineral density with estrogen receptor gene polymorphisms. Am J Med 2006; 119(9 Suppl 1):79-86.

Herrington DM, Howard TD, Hawkins GA et al. Estrogen-receptor polymorphisms and effects of estrogen replacement on high-density lipoprotein cholesterol in women with coronary disease. N Engl J Med 2002; 346:967-74.

Holst F, Stahl PR, Ruiz C et al. Estrogen receptor alpha (ESR1) gene amplification is frequent in breast cancer. Nat Genet 2007; 39:655-60.

Jin Y, Hayes DF, Li L et al. Estrogen receptor genotypes influence hot flash prevalence and composite score before and after tamoxifen therapy. J Clin Oncol 2008; 26:5849-54.

Kajinami K, Brousseau ME, Lamon-Fava S, Ordovas JM, Schaefer EJ. Gender-specific effects of estrogen receptor alpha gene haplotype on high-density lipoprotein cholesterol response to atorvastatin: interaction with apolipoprotein AI gene polymorphism. Atherosclerosis 2005; 178:331-8.

Kisiel BM, Kosinska J, Wierzbowska M et al. Differential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and beta. Lupus 2011; 20:85-9.

Lu H, Higashikata T, Inazu A et al. Association of estrogen receptor-alpha gene polymorphisms with coronary artery disease in patients with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2002; 22:817-23.

Molvarec A, Vér A, Fekete A et al. Association between estrogen receptor alpha (ESR1) gene polymorphisms and severe preeclampsia. Hypertens Res 2007; 30:205-11.

Munshi A, Sharma V, Kaul S et al. Estrogen receptor α genetic variants and the risk of stroke in a South Indian population from Andhra Pradesh. Clin Chim Acta 2010; 411:1817-21.

Ntukidem NI, Nguyen AT, Stearns V et al. Estrogen receptor genotypes, menopausal status, and the lipid effects of tamoxifen. Clin Pharmacol Ther 2008; 83:702-10.

Oterino A, Pascual J, Ruiz de Alegría C et al. Association of migraine and ESR1 G325C polymorphism. Neuroreport 2006; 17:61-4.

Polanczyk M, Yellayi S, Zamora A et al. Estrogen receptor-1 (Esr1) and -2 (Esr2) regulate the severity of clinical experimental allergic encephalomyelitis in male mice. Am J Pathol 2004; 164:1915-24.

Roszkowska-Gancarz M, Kurylowicz A, Polosak J, Ambroziak M, Puzianowska-Kuznicka M. The -351A/G polymorphism of ESR1 is associated with risk of myocardial infarction but not with extreme longevity. Clin Chim Acta 2010; 411:1883-7.

Salmén T, Heikkinen AM, Mahonen A et al. Early postmenopausal bone loss is associated with PvuII estrogen receptor gene polymorphism in Finnish women: effect of hormone replacement therapy. J Bone Miner Res 2000; 15:315-21.

Shearman AM, Cooper JA, Kotwinski PJ et al. Estrogen receptor alpha gene variation is associated with risk of myocardial infarction in more than seven thousand men from five cohorts. Circ Res 2006; 98:590-2.

Smith EP, Specker B, Bachrach BE et al. Impact on bone of an estrogen receptor-alpha gene loss of function mutation. J Clin Endocrinol Metab 2008; 93:3088-96.

Sowers MR, Jannausch ML, McConnell DS, Kardia SR, Randolph JF Jr. Endogenous estradiol and its association with estrogen receptor gene polymorphisms. Am J Med 2006; 119(9 Suppl 1):16-22.

Sowers MR, Symons JP, Jannausch ML, Chu J, Kardia SR. Sex steroid hormone polymorphisms, high-density lipoprotein cholesterol, and apolipoprotein A-1 from the Study of Women’s Health Across the Nation (SWAN). Am J Med 2006; 119(9 Suppl 1):61-8.

Tapper W, Hammond V, Gerty S et al. The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer. Breast Cancer Res 2008; 10:108.

Versini A, Ramoz N, Le Strat Y et al. Estrogen receptor 1 gene (ESR1) is associated with restrictive anorexia nervosa. Neuropsychopharmacology 2010; 35:1818-25.

Yamamoto Y, Moore R, Hess HA et al. Estrogen receptor alpha mediates 17alpha-ethynylestradiol causing hepatotoxicity. J Biol Chem 2006; 281:16625-31.

Yu JC, Hsiung CN, Hsu HM et al. Genetic variation in the genome-wide predicted estrogen response element-related sequences is associated with breast cancer development. Breast Cancer Res 2011; 13:13.

Zavratnik A, Prezelj J, Kocijancic A, Marc J. Exonic, but not intronic polymorphisms of ESR1 gene might influence the hypolipemic effect of raloxifene. J Steroid Biochem Mol Biol 2007; 104:22-6.

Zhai Y, Zhou G, Deng G et al. Estrogen receptor alpha polymorphisms associated with susceptibility to hepatocellular carcinoma in hepatitis B virus carriers. Gastroenterology 2006; 130:2001-9.

ESR2 (estrogen receptor 2 (ER beta))

Breast and Prostate Cancer Cohort Consortium; Cox DG, Bretsky P et al. Haplotypes of the estrogen receptor beta gene and breast cancer risk. Int J Cancer 2008; 122:387-92.

Chen YC, Kraft P, Bretsky P et al. Sequence variants of estrogen receptor beta and risk of prostate cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. Cancer Epidemiol Biomarkers Prev 2007; 16:1973-81.

Greendale GA, Chu J, Ferrell R, Randolph JF Jr, Johnston JM, Sowers MR. The association of bone mineral density with estrogen receptor gene polymorphisms. Am J Med 2006; 119(9 Suppl 1):79-86.

Jin Y, Hayes DF, Li L et al. Estrogen receptor genotypes influence hot flash prevalence and composite score before and after tamoxifen therapy. J Clin Oncol 2008; 26:5849-54.

Leigh Pearce C, Near AM, Butler JL et al. Comprehensive evaluation of ESR2 variation and ovarian cancer risk. Cancer Epidemiol Biomarkers Prev 2008; 17:393-6.

Lurie G, Wilkens LR, Thompson PJ et al. Genetic polymorphisms in the estrogen receptor beta (ESR2) gene and the risk of epithelial ovarian carcinoma. Cancer Causes Control 2009; 20:47-55.

Maguire P, Margolin S, Skoglund J et al. Estrogen receptor beta (ESR2) polymorphisms in familial and sporadic breast cancer. Breast Cancer Res Treat 2005; 94:145-52.

Nikkari ST, Henttonen A, Kunnas T et al. Estrogen receptor 2 polymorphism and carotid intima-media thickness. Genet Test 2008; 12:537-40.

Ntukidem NI, Nguyen AT, Stearns V et al. Estrogen receptor genotypes, menopausal status, and the lipid effects of tamoxifen. Clin Pharmacol Ther 2008; 83:702-10.

Ogawa S, Emi M, Shiraki M, Hosoi T, Ouchi Y, Inoue S. Association of estrogen receptor beta (ESR2) gene polymorphism with blood pressure. J Hum Genet 2000; 45:327-30.

Rexrode KM, Ridker PM, Hegener HH, Buring JE, Manson JE, Zee RY. Polymorphisms and haplotypes of the estrogen receptor-beta gene (ESR2) and cardiovascular disease in men and women. Clin Chem 2007; 53:1749-56.

Sainz J, Rudolph A, Hein R et al. Association of genetic polymorphisms in ESR2, HSD17B1, ABCB1, and SHBG genes with colorectal cancer risk. Endocr Relat Cancer 2011; 18:265-76.

Sowers MR, Jannausch ML, McConnell DS, Kardia SR, Randolph JF Jr. Endogenous estradiol and its association with estrogen receptor gene polymorphisms. Am J Med 2006; 119(9 Suppl 1):16-22.

Sowers MR, Symons JP, Jannausch ML, Chu J, Kardia SR. Sex steroid hormone polymorphisms, high-density lipoprotein cholesterol, and apolipoprotein A-1 from the Study of Women’s Health Across the Nation (SWAN). Am J Med 2006; 119(9 Suppl 1):61-8.

Treeck O, Elemenler E, Kriener C et al. Polymorphisms in the promoter region of ESR2 gene and breast cancer susceptibility. J Steroid Biochem Mol Biol 2009; 114:207-11.

Yu KD, Rao NY, Chen AX, Fan L, Yang C, Shao ZM. A systematic review of the relationship between polymorphic sites in the estrogen receptor-beta (ESR2) gene and breast cancer risk. Breast Cancer Res Treat 2011; 126:37-45.