FGFR3基因单核苷酸多态与绝经前乳腺癌易感性的关联研究

doi:10.11904/j.issn.1002-3070.2017.05.006

Abstract

Abstract: Objective The aim of this study was to investigate the association between single nucleotide polymorphisms(SNPs)in FGFR3 gene and the risk of breast cancer.Methods The frequency of SNP genotypes rs2234909 and rs3135848 of FGFR3 gene in premenopausal breast cancer patients and premenopausal normal females were detected by multiple clonal extension SNP typing technique.The SNP genotypes were compared with different SNP genotypes and the risk of premenopausal breast cancer.Results There was no difference in the genotype frequencies of SNP rs2234909 and rs3135848 between breast cancer and control groups(P＞0.05).Logistic regression analysis showed that there was no correlation between TC and TC +CC genotype and risk of breast cancer(OR=1.035,95% CI:0.680~1.575,P=0.874;OR=0.985,95% CI:0.638~1.521,P=0.945).For the rs3135848 locus,the genotypes of TC,CC and TC+CC were not associated with the risk of breast cancer(OR=1.177,95% CI:0.846-1.636,P=0.333;OR=0.948,95% CI:0.287-3.137,P=0.931;OR=1.162,95% CI:0.548~1.112,P=0.360).Histological grade was significantly higher in breast cancer with rs2234909 mutation than that of the non-mutation group(dominant model:P=0.032,co-dominant model:P=0.024).The Ki67 index of FGFR3 gene locus rs2234909 mutation was higher than that of the non-mutation(dominant model:P=0.056;co-dominant model:P=0.044).There was no difference between rs3135848 mutation and both site mutation with clinicopathological features of breast cancer patients(P＞0.05).Conclusion The SNP genotypes of rs2234909 and rs3135848 of FGFR3 gene were not associated with susceptibility to breast cancer in premenopausal women in North of China.Rs2234909 mutation was positively correlated with histological grade and Ki67 index in premenopausal breast cancer patients.

Key words: Breast cancer, FGFR3 gene, Single nucleotide polymorphism, Genetic susceptibility

CLC Number:

R737.9

LI Wei, JIANG Yongdong, PANG Da. Association between single nucleotide polymorphisms in FGFR3 gene and risk of breast cancer[J]. PRACTICAL ONCOLOGY JOURNAL, 2017, 31(5): 417-424.

References

1 Siegel RL,Miller KD,Jemal A.Cancer statistics,2017[J].CA Cancer J Clin,2017,67(1):7-30.
2 Fan L,Strasser-Weippl K,Li JJ,et al.,Breast cancer in China[J].Lancet Oncol,2014,15(7):279-289.
3 Kwong A,Shin VY,Ho JC,et al.Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries[J].J Med Genet,2016,53(1):15-23.
4 Helsten T,Schwaederle M,Kurzrock R.Fibroblast growth factor receptor signaling in hereditary and neoplastic disease:biologic and clinical implications[J].Cancer Metastasis Rev,2015,34(3):479-496.
5 Katoh M.FGFR inhibitors:Effects on cancer cells,tumor microenvironment and whole-body homeostasis(Review)[J].Int J Mol Med,2016,38(1):3-15.
6 Parker BC,Engels M,Annala M,et al.Emergence of FGFR family gene fusions as therapeutic targets in a wide spectrum of solid tumours[J].J Pathol,2014,232(1):4-15.
7 Phipps AI,Ichikawa L,Bowles EJ,et al.Defining menopausal status in epidemiologic studies:A comparison of multiple approaches and their effects on breast cancer rates[J].Maturitas,2010,67(1):60-66.
8 Wang J,Yang DL,Chen ZZ,et al.Associations of body mass index with cancer incidence among populations,genders,and menopausal status:A systematic review and meta-analysis[J].Cancer Epidemiol,2016,42:1-8.
9 Lafitte M,Moranvillier I,Garcia S,et al.FGFR3 has tumor suppressor properties in cells with epithelial phenotype[J].Mol Cancer,2013,12:83.
10 Chellaiah AT,McEwen DG,Werner S,et al.Fibroblast growth factor receptor(FGFR)3.Alternative splicing in immunoglobulin-like domain III creates a receptor highly specific for acidic FGF/FGF-1[J].J Biol Chem,1994,269(15):11620-11627.
11 Pannier S,Couloigner V,Messaddeq N,et al.Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia[J].Biochim Biophys Acta,2009,1792(2):140-147.
12 Pannier S,Mugniery E,Jonquoy A,et al.Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia[J].Bone,2010,47(5):905-915.
13 Kanazawa TY,Bonadia LC,Cavalcanti DP.Frequency of the allelic variant c.1150T ＞ C in exon 10 of the fibroblast growth factor receptor 3(FGFR3)gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypes[J].Genet Mol Biol,2014,37(4):622-624.
14 Lindy AS,Basehore MJ,Munisha M,et al.Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1[J].Am J Med Genet A,2016,170(6):1573-1579.
15 Del Piccolo N,Placone J,Hristova K.Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization[J].Biophys J,2015,108(2):272-278.
16 Onwuazor ON,Wen XY,Wang DY,et al.Mutation,SNP,and isoform analysis of fibroblast growth factor receptor 3(FGFR3)in 150 newly diagnosed multiple myeloma patients[J].Blood,2003,102(2):772-773.
17 Saez B,Martin-Subero JI,Lahortiga I,et al.Simultaneous translocations of FGFR3/MMSET and CCND1 into two different IGH alleles in multiple myeloma:lack of concurrent activation of both proto-oncogenes[J].Cancer Genet Cytogenet,2007,175(1):65-68.
18 Christensen E,Birkenkamp-Demtroder K,Nordentoft I,et al.Liquid biopsy analysis of FGFR3 and PIK3CA hotspot mutations for disease surveillance in bladder cancer[J].Eur Urol,2017,71(6):961-969.
19 Chou A,Dekker N,Jordan RC.Identification of novel fibroblast growth factor receptor 3 gene mutations in actinic cheilitis and squamous cell carcinoma of the lip[J].Oral Surg Oral Med Oral Pathol Oral Radiol Endod,2009,107(4):535-541.
20 Zhang Y,Hiraishi Y,Wang H,et al.Constitutive activating mutation of the FGFR3b in oral squamous cell carcinomas[J].Int J Cancer,2005,117(1):166-168.
21 Kogita A,Yoshioka Y,Sakai K,et al.Inter-and intra-tumor profiling of multi-regional colon cancer and metastasis[J].Biochem Biophys Res Commun,2015,458(1):52-56.
22 Zammit C,Barnard R,Gomm J,et al.Altered intracellular localization of fibroblast growth factor receptor 3 in human breast cancer[J].J Pathol,2001,194(1):27-34.
23 Johnston CL,Cox HC,Gomm JJ,et al.Fibroblast growth factor receptors(FGFRs)localize in different cellular compartments.A splice variant of FGFR-3 localizes to the nucleus[J].J Biol Chem,1995,270(51):30643-30650.
24 Penault-Llorca F,Bertucci F,Adelaide J,et al.Expression of FGF and FGF receptor genes in human breast cancer[J].Int J Cancer,1995,61(2):170-176.
25 Agarwal D,Pineda S,Michailidou K,et al.FGF receptor genes and breast cancer susceptibility:results from the Breast Cancer Association Consortium[J].Br J Cancer,2014,110(4):1088-1100.

[1]	WANG Xiaoya,XIAO Bin,LIAO Yang,TANG Rongzhi,SUN Zhaohui,LI Linhai. Expression of CXCR family proteins in different subtypes of breast cancer and their clinical prognosis [J]. PRACTICAL ONCOLOGY JOURNAL, 2019, 33(3): 206-210.
[2]	LI Shuo,ZHANG Nannan,LI Liangliang,LONG Zhiping,YIN Huihui,ZHAO Yashuang,WANG Fan. Relationship between PDE4C gene methylation in peripheral blood leukocytes,interaction of environmental factors and pathogenesis of breast cancer [J]. PRACTICAL ONCOLOGY JOURNAL, 2019, 33(3): 233-238.
[3]	LIU Jiayin,YAN Feihu,ZHANG Yanqiao. Genetic susceptibility of gastric cancer with single nucleotide polymorphisms(SNPs)of apoptotic genes - caspase-3 and caspase-7 [J]. PRACTICAL ONCOLOGY JOURNAL, 2019, 33(3): 250-255.
[4]	CHEN Yanbo, KONG Dejia, ZHANG Jinfeng, MA Zhigang. Correlation between CYP2D6 gene polymorphism and tamoxifen metabolism in breast cancer patients [J]. PRACTICAL ONCOLOGY JOURNAL, 2019, 33(2): 110-114.
[5]	SUN Jianghong, HAO Mingzhu, JIANG Dan, GUO Fei, LI Xiaomei. FFDM differential diagnosis of mastitis,benign hyperplasia and breast cancer [J]. PRACTICAL ONCOLOGY JOURNAL, 2019, 33(2): 139-141.
[6]	MA Zhijie, WANG Fan, ZHAO Yashuang. Analysis of life quality and influencing factors in breast cancer patients with chemotherapy [J]. PRACTICAL ONCOLOGY JOURNAL, 2019, 33(2): 149-154.
[7]	MA Zhingying, SHANG Naijian, CAI Miaotian, SHEN Yang, JIANG Zhiyun. Correlation between HER-2 receptor of progesterone and estrogen receptor-positive breast cancer and mammography imaging & clinicopathological features [J]. PRACTICAL ONCOLOGY JOURNAL, 2019, 33(1): 47-51.
[8]	HU Zhihui, ZHANG Jing. Research progress in the prediction of SNP on radiation-induced lung injury [J]. PRACTICAL ONCOLOGY JOURNAL, 2019, 33(1): 87-91.
[9]	HE Xu, YE shangmian, DONG dandan, LI Ke. The expression of HLA-G in breast cancer and its significance [J]. PRACTICAL ONCOLOGY JOURNAL, 2018, 32(5): 410-414.
[10]	LIN Rongjie, YIN Hang, ZHOU Yunfeng. Effect of ON123300 on ER+ human breast cancer MCF-7 cells and its mechanism [J]. PRACTICAL ONCOLOGY JOURNAL, 2018, 32(3): 193-197.
[11]	LI Lin, LI Zhigao. The relationship between metformin and different molecular subtypes of breast cancer [J]. PRACTICAL ONCOLOGY JOURNAL, 2018, 32(3): 267-270.
[12]	ZHENG Wei, XU Shouping, PANG Da. Expression,prognosis and function of long chain non-coding RNA-Linc00152 in breast cancer [J]. PRACTICAL ONCOLOGY JOURNAL, 2018, 32(1): 7-13.
[13]	YIN Yulian, ZHANG Weihong, ZHOU Yue, YE Meina, CHEN Hongfeng. Correlation between single nucleotide polymorphisms of ERα gene and bone loss associated with aromatase inhibitors in postmenopausal women with breast cancer [J]. PRACTICAL ONCOLOGY JOURNAL, 2018, 32(1): 14-18.
[14]	LI Yujiao, SHANG Naijian. Research progress of imaging evaluation of neoadjuvant chemotherapy in breast cancer [J]. PRACTICAL ONCOLOGY JOURNAL, 2018, 32(1): 63-67.
[15]	CHEN Zhuo, KONG Yiran. Effect of silencing UHRF1 on proliferation and metastasis of breast cancer cells [J]. PRACTICAL ONCOLOGY JOURNAL, 2017, 31(6): 512-518.

Association between single nucleotide polymorphisms in FGFR3 gene and risk of breast cancer

PDF (PC)

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Recommended Articles

Metrics

Comments