Genetic polymorphism of ESR1 rs2881766 increases breast cancer risk in Korean women

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• 作者：Byung Ho Son ; Mi Kyung Kim ; Young Mi Yun…
• 关键词：Breast cancer ; Genetic polymorphism ; Estrogen ; metabolizing enzyme ; Estrogen receptor gene ; Age ; Subtype
• 刊名：Journal of Cancer Research and Clinical Oncology
• 出版年：2015
• 出版时间：April 2015
• 年：2015
• 卷：141
• 期：4
• 页码：633-645
• 全文大小：264 KB
• 参考文献：1. Ahn, SH, Son, BH, Kim, SW, Kim, SI, Jeong, J, Ko, SS, Han, W (2007) Poor outcome of hormone receptor-positive breast cancer at very young age is due to tamoxifen resistance: nationwide survival data in Korea–a report from the Korean Breast Cancer Society. J Clin Oncol 25: pp. 2360-2368 CrossRef
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  3. Anghel, A, Raica, M, Narita, D, Seclaman, E, Nicola, T, Ursoniu, S, Anghel, M, Popovici, E (2010) Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer. Neoplasma 57: pp. 306-315 CrossRef
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  5. Cai, Q, Shu, XO, Jin, F, Dai, Q, Wen, W, Cheng, JR, Gao, YT, Zheng, W (2003) Genetic polymorphisms in the estrogen receptor alpha gene and risk of breast cancer: results from the Shanghai Breast Cancer Study. Cancer Epidemiol Biomark Prev 12: pp. 853-859
  6. Carey, LA, Perou, CM, Livasy, CA, Dressler, LG, Cowan, D, Conway, K, Karaca, G, Troester, MA, Tse, CK, Edmiston, S, Deming, SL, Geradts, J, Cheang, MC, Nielsen, TO, Moorman, PG, Earp, HS, Millikan, RC (2006) Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study. JAMA 295: pp. 2492-2502 CrossRef
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  8. Figueroa JD, Garcia-Closas M, Humphreys M, Platte R, Hopper JL, Southey MC, Apicella C, Hammet F, Schmidt MK, Broeks A, Tollenaar RA, Van’t Veer LJ, Fasching PA, Beckmann MW, Ekici AB, Strick R, Peto J, dos Santos Silva I, Fletcher O, Johnson N, Sawyer E, Tomlinson I, Kerin M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Bojesen S, Flyger H, Nordestgaard BG, Benitez J, Milne RL, Ignacio Arias J, Zamora MP, Brenner H, Muller H, Arndt V, Rahman N, Turnbull C, Seal S, Renwick A, Brauch H, Justenhoven C, Bruning T, Network G, Chang-Claude J, Hein R, Wang-Gohrke S, Dork T, Schurmann P, Bremer M, Hillemanns P, Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, Bogdanova N, Antonenkova N, Rogov YI, Karstens JH, Bermisheva M, Prokofieva D, Gantcev SH, Khusnutdinova E, Lindblom A, Margolin S, Chenevix-Trench G, Beesley J, Chen X, kConFab AMG, Mannermaa A, Kosma VM, Soini Y, Kataja V, Lambrechts D, Yesilyurt BT, Chrisiaens MR, Peeters S, Radice P, Peterlongo P, Manoukian S, Barile M, Couch F, Lee AM, Diasio R, Wang X, Giles GG, Severi G, Baglietto L, Maclean C, Offit K, Robson M, Joseph V, Gaudet M, John EM, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Andrulis I, Knight JA, Mulligan AM, O’Malley FP, Brinton LA, Sherman ME, Lissowska J, Chanock SJ, Hooning M, Martens JW, van den Ouweland AM, Collee JM, Hall P, Czene K, Cox A, Brock IW, Reed MW, Cross SS, Pharoah P, Dunning AM, Kang D, Yoo KY, Noh DY, Ahn SH, Jakubowska A, Lubinski J, Jaworska K, Durda K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Shen CY, Ding SL, Hsu HM, Yu JC, Anton-Culver H, Ziogas A, Ashworth A,
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Oncology
  Cancer Research
  Internal Medicine
  Hematology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1335

文摘

Purpose We performed a case–control study to evaluate the association of genetic polymorphisms of estrogen-metabolizing enzyme genes and estrogen receptor genes with breast cancer risk according to age group and subtypes in Korean women. Methods Breast cancer patients (n?=?830) and the hospital healthy controls (n?=?390) with both clinical information and SNP data were included in the study. Age was divided into three groups: premenopausal under 35?years (n?=?64), premenopausal over 35?years (n?=?456), and postmenopausal women (n?=?310), respectively. Tumor subtype was classified into four subtypes: luminal A, luminal B, HER2-overexpressing, and triple-negative, respectively. Genotyping of the selected SNPs in ESR1, ESR2, CYP1A1, CYP1B1, and COMT was conducted using the VeraCode Golden Gate Genotyping Assay Technology. Multiple logistic regression models (dominant, recessive, and additive) were applied to determine the odds ratio, 95?% confidence interval, and p value. Results ESR1, rs2881766, rs2077647, rs926778, and rs2273206 polymorphisms increased breast cancer risk, and rs3798377 decreased the risk in overall patients. The association between SNP genotype and breast cancer risk was varied according to age groups and tumor subtypes. For age subgroups, rs2881766 increased breast cancer risk in the all three age groups, and rs926778 increased the risk in premenopausal over 35?years women and in postmenopausal women. For the tumor subtypes, rs2881766 increased breast cancer risk manly in luminal A, HER2-overexpressing, and triple-negative subtypes except for luminal B subtype, and rs926778 increased the risk in luminal A and triple-negative subtypes. Rs3798577 decreased the risk in luminal B and triple-negative subtypes. Conclusion The results showed that ESR1 rs2881766 polymorphism increased breast cancer risk and rs3798377 decreased the risk in Korean women. Because of wide variation of the association between SNP genotype and breast cancer risk according to age group and tumor subtypes, further studies such as a large-scale cohort study need for validation and test of biologic significance.