6p.12 |
VEGF
|
CC (69.2%) |
rs1005230
rs25648
|
-0.97 |
28.18 |
0.279 |
0.89-1.0 |
rs1005230 (Linhares et al., 2018Linhares P, Viana-Pereira M, Ferreira M, Amorim J, Nabiço R, Pinto F, Costa S, Vaz R and Reis RM (2018) Genetic variants of vascular endothelial growth factor predict risk and survival of gliomas. Tumour Biol 40:1010428318766273.) rs25648 (Song et al., 2019Song Y, Yang Y, Liu L and Liu X (2019) Association between five polymorphisms in vascular endothelial growth factor gene and urinary bladder cancer risk: A systematic review and meta-analysis involving 6671 subjects. Gene 698:186-197. ) |
TC (19.4%) |
-0.97 |
28.18 |
0.279 |
0.89-1.0 |
TT (11.3%) |
-0.97 |
28.18 |
0.279 |
0.89-1.0 |
CCG (50.1%) |
rs3025039
rs3025040
rs10434
|
-0.97 |
79.85 |
0.842 |
0.93-1.0 |
rs3025039 (Hou et al., 2017Hou Q, Li MY, Huang WT, Wei FF, Peng JP, Lou MW and Qiu JG (2017) Association between three VEGF polymorphisms and renal cell carcinoma susceptibility: a meta-analysis. Oncotarget 8:50061-50070.; Wang et al., 2018Wang S, Qian F, Zheng Y, Ogundiran T, Ojengbede O, Zheng W, Blot W, Nathanson KL, Hennis A, Nemesure B et al. (2018) Genetic variants demonstrating flip-flop phenomenon and breast cancer risk prediction among women of African ancestry. Breast Cancer Res Treat 168:703-712.; Song et al., 2019Song Y, Yang Y, Liu L and Liu X (2019) Association between five polymorphisms in vascular endothelial growth factor gene and urinary bladder cancer risk: A systematic review and meta-analysis involving 6671 subjects. Gene 698:186-197. ) rs3025040 (Jeon et al., 2014Jeon YJ, Kim JW, Park HM, Jang HG, Kim JO, Oh J, Chong SY, Kwon SW, Kim EJ, Oh D et al. (2014) Interplay between 3′-UTR polymorphisms in the vascular endothelial growth factor (VEGF) gene and metabolic syndrome in determining the risk of colorectal cancer in Koreans. BMC Cancer 14:881.; Liu et al., 2017Liu R, Ning L, Liu X, Zhang H, Yu Y, Zhang S, Rao W, Shi J, Sun H, and Yu Q (2017) Association between single nucleotide variants of vascular endothelial growth factor A and the risk of thyroid carcinoma and nodular goiter in a Han Chinese population. Oncotarget 8:15838-15845.) rs10434 (Jeon et al., 2014Jeon YJ, Kim JW, Park HM, Jang HG, Kim JO, Oh J, Chong SY, Kwon SW, Kim EJ, Oh D et al. (2014) Interplay between 3′-UTR polymorphisms in the vascular endothelial growth factor (VEGF) gene and metabolic syndrome in determining the risk of colorectal cancer in Koreans. BMC Cancer 14:881.; Zhu et al., 2015Zhu LX, Ye XJ, Wang YG, Zhu JJ, Xie WZ, Zhao YM and Lai XY (2015) 3'-UTR polymorphism (rs10434) in the VEGF gene is associated with B-CLL in a Chinese population. Genet Mol Res 14:4085-4089.; Wang et al., 2018Wang S, Qian F, Zheng Y, Ogundiran T, Ojengbede O, Zheng W, Blot W, Nathanson KL, Hennis A, Nemesure B et al. (2018) Genetic variants demonstrating flip-flop phenomenon and breast cancer risk prediction among women of African ancestry. Breast Cancer Res Treat 168:703-712.) |
CCA (29.1%) |
1 |
12.6 |
0.092 |
0.86-1.0 |
TTG (18.1%) |
1 |
13.93 |
0.105 |
0.88-1.0 |
CTG (2,3%) |
1 |
13.93 |
0.105 |
0.88-1.0 |
11p.13 |
MMP7 |
TT (53,8%) |
rs12285347
rs11568818
|
1 |
121.84 |
0.901 |
0.98-1.0 |
rs12285347 (Hoffmann et al., 2017Hoffmann TJ, Passarelli MN, Graff RE, Emami NC, Sakoda LC, Jorgenson E, Habel LA, Shan J, Ranatunga DK, Quesenberry CP et al. (2017) Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. Nat Commun 8:14248.) Increased PSA rs11568818 (Beeghly-Fadiel et al., 2009Beeghly‐Fadiel A, Shu XO, Long J, Li C, Cai Q, Cai H, Gao YT and Zheng W (2009) Genetic polymorphisms in the MMP‐7 gene and breast cancer survival. Int J Cancer 124:208-214.; Sharma et al., 2012Sharma KL, Misra S, Kumar A and Mittal B (2012) Higher risk of matrix metalloproteinase (MMP‐2, 7, 9) and tissue inhibitor of metalloproteinase (TIMP‐2) genetic variants to gallbladder cancer. Liver Int 32:1278-1286.; Wu et al., 2013Wu H, Qiao N, Wang Y, Jiang M, Wang S, Wang C and Hu L (2013) Association between the telomerase reverse transcriptase (TERT) rs2736098 polymorphism and cancer risk: Evidence from a case-control study of non-small-cell lung cancer and a meta-analysis. PLoS One 8:e76372.; Wieczorek et al., 2014Wieczorek E, Wasowicz W, Gromadzinska J and Reszka E (2014) Functional polymorphisms in the matrix metalloproteinase genes and their association with bladder cancer risk and recurrence: A mini‐review. Int J Urol 21:744-752.; Kesh et al., 2015Kesh K, Subramanian L, Ghosh N, Gupta V, Gupta A, Bhattacharya S, Mahapatra NR and Swarnakar S (2015) Association of MMP7− 181A→ G promoter polymorphism with gastric cancer risk: Influence of nicotine in differential allele-specific transcription via increased phosphorylation of cAMP-response element-binding protein (Creb). J Biol Chem 290:14391-14406.; Horvat et al., 2017Horvat M, Potocnik U, Repnik K, Kavalar R, Zadnik V, Potrc S and Stabuc B (2017) Single nucleotide polymorphisms in genes MACC1, RAD18, MMP7 and SDF-1a as prognostic factors in resectable colorectal cancer. Radiol Oncol 51:151-159.; Xie et al., 2016Xie B, Zhang Z, Wang H, Chen Z, Wang Y, Liang H, Yang G, Yang X and Zhang H (2016) Genetic polymorphisms in MMP 2, 3, 7, and 9 genes and the susceptibility and clinical outcome of cervical cancer in a Chinese Han population. Tumour Biol 37:4883-4888.; Bialkowska et al., 2018Białkowska K, Marciniak W, Muszyńska M, Baszuk P, Gupta S, Jaworska-Bieniek K, Sukiennicki G, Durda K, Gromowski T, Prajzendanc K et al. (2018) Association of zinc level and polymorphism in MMP-7 gene with prostate cancer in Polish population. PLoS One 13:e0201065.) |
CC (43.6%) |
1 |
121.84 |
0.901 |
0.98-1.0 |
CT (2.6%) |
1 |
121.84 |
0.901 |
0.98-1.0 |
13p.13 |
ERCC5
|
AC (68,3%) |
rs4150351
rs4150360
|
1 |
13.26 |
0.126 |
0.85-1.0 |
rs4150351 (Barry et al., 2012Barry KH, Koutros S, Andreotti G, Sandler DP, Burdette LA, Yeager M, Freeman LEB, Lubin JH, Ma X, Zheng T et al. (2012) Genetic variation in nucleotide excision repair pathway genes, pesticide exposure and prostate cancer risk. Carcinogenesis 33:331-337.; Ma et al., 2012Ma H, Yu H, Liu Z, Wang LE, Sturgis EM and Wei Q (2012) Polymorphisms of XPG/ERCC5 and risk of squamous cell carcinoma of the head and neck. Pharmacogenet Genomics 22:50-57. ) rs4150360 (Song et al., 2017Song X, Wang S, Hong X, Li X, Zhao X, Huai C, Chen H, Gao Z, Qian J, Wang J et al. (2017) Single nucleotide polymorphisms of nucleotide excision repair pathway are significantly associated with outcomes of platinum-based chemotherapy in lung cancer. Sci Rep 7:11785.). Gastrointestinal toxicity |
AT (26.2%) |
1 |
13.26 |
0.126 |
0.85-1.0 |
CT (5.5%) |
1 |
13.26 |
0.126 |
0.85-1.0 |
16p.13 |
CDH1
|
GT (73,0%) |
rs8056538
rs2113200
|
1 |
101.74 |
0.895 |
0.97-1.0 |
rs8056538 rs2113200 (Beeghly-Fadiel et al., 2010Beeghly-Fadiel A, Lu W, Gao YT, Long J, Deming SL, Cai Q, Zheng Y, Shu XO and Zheng W (2010) E-cadherin polymorphisms and breast cancer susceptibility: A report from the Shanghai Breast Cancer Study. Breast Cancer Res Treat 121:445-452.; Carvajal-Carmona et al., 2011Carvajal-Carmona LG, Cazier JB, Jones AM, Howarth K, Broderick P, Pittman A, Dobbins S, Tenesa A, Farrington S, Prendergast J et al. (2011) Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: Refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes. Hum Mol Genet 20:2879-2888.). Colorectal cancer risk |
AA (24.8%) |
1 |
101.74 |
0.895 |
0.97-1.0 |
AT (2.1%) |
1 |
101.74 |
0.895 |
0.97-1.0 |
CA (78.8%) |
rs12919719
rs17715799
|
-0.97 |
82.37 |
0.838 |
0.93-1.0 |
rs12919719 (Beeghly-Fadiel et al., 2010Beeghly-Fadiel A, Lu W, Gao YT, Long J, Deming SL, Cai Q, Zheng Y, Shu XO and Zheng W (2010) E-cadherin polymorphisms and breast cancer susceptibility: A report from the Shanghai Breast Cancer Study. Breast Cancer Res Treat 121:445-452.); rs17715799 (Jia et al., 2015Jia YM, Xie YT, Wang YJ, Han JY, Tian XX and Fang WG (2015) Association of Genetic Polymorphisms in CDH1 and CTNNB1 with Breast Cancer Susceptibility and Patients' Prognosis Among Chinese Han Women. PLoS One 10:e0135865.; Geng et al., 2018Geng YH, Wang ZF, Jia YM, Zheng LY, Chen L, Liu DG, Li XH, Tian XX and Fang WG (2018) Genetic polymorphisms in CDH1 are associated with endometrial carcinoma susceptibility among Chinese Han women. Oncol Lett 16:6868-6878.). |
GT (18.4%) |
-0.97 |
82.37 |
0.838 |
0.93-1.0 |
CT (2.4%) |
-0.97 |
82.37 |
0.838 |
0.93-1.0 |
GC (50.1%) |
rs7188750
rs4783689
|
-0.96 |
13.52 |
0.103 |
0.82-1.0 |
rs7188750 (Beeghly-Fadiel et al., 2010Beeghly-Fadiel A, Lu W, Gao YT, Long J, Deming SL, Cai Q, Zheng Y, Shu XO and Zheng W (2010) E-cadherin polymorphisms and breast cancer susceptibility: A report from the Shanghai Breast Cancer Study. Breast Cancer Res Treat 121:445-452.); rs4783689 (Jia et al., 2015Jia YM, Xie YT, Wang YJ, Han JY, Tian XX and Fang WG (2015) Association of Genetic Polymorphisms in CDH1 and CTNNB1 with Breast Cancer Susceptibility and Patients' Prognosis Among Chinese Han Women. PLoS One 10:e0135865.; Geng et al., 2018Geng YH, Wang ZF, Jia YM, Zheng LY, Chen L, Liu DG, Li XH, Tian XX and Fang WG (2018) Genetic polymorphisms in CDH1 are associated with endometrial carcinoma susceptibility among Chinese Han women. Oncol Lett 16:6868-6878.) |
GT (27.5%) |
-0.96 |
13.52 |
0.103 |
0.82-1.0 |
AC (22.2%) |
-0.96 |
13.52 |
0.103 |
0.82-1.0 |
17p13 |
TP53
|
ATC (58.4%) |
rs12951053
rs2909430
rs1042522
|
1 |
3.56 |
0.035 |
0.58-1.0 |
rs12951053 (Mechanic et al., 2007Mechanic LE, Bowman ED, Welsh JA, Khan MA, Hagiwara N, Enewold L, Shields PG, Burdette L, Chanock S and Harris CC (2007) Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumors. Cancer Epidemiol Biomarkers Prev 16:214-222.; Ru et al., 2015Ru JY, Cong Y, Kang WB, Yu L, Guo T and Zhao JN (2015) Polymorphisms in TP53 are associated with risk and survival of osteosarcoma in a Chinese population. Int J Clin Exp Pathol 8:3198-3203.; Bilous et al., 2016Bilous NI, Abramenko IV, Chumak AA, Dyagil IS and Martina ZM (2016) The distribution of TP53 gene polymorphisms in chronic lymphocytic leukemia patients, sufferers of Chornobyl nuclear power plant accident. Exp Oncol 38:252-256.) rs2909430 (Mechanic et al., 2007Mechanic LE, Bowman ED, Welsh JA, Khan MA, Hagiwara N, Enewold L, Shields PG, Burdette L, Chanock S and Harris CC (2007) Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumors. Cancer Epidemiol Biomarkers Prev 16:214-222.; Bilous et al., 2017Bilous N, Abramenko I, Saenko V, Chumak A, Dyagil I, Martina Z and Kryachok I (2017) Clinical relevance of TP53 polymorphic genetic variations in chronic lymphocytic leukemia. Leuk Res 58:1-8.) rs1042522 (Mechanic et al., 2007Mechanic LE, Bowman ED, Welsh JA, Khan MA, Hagiwara N, Enewold L, Shields PG, Burdette L, Chanock S and Harris CC (2007) Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumors. Cancer Epidemiol Biomarkers Prev 16:214-222.; Ru et al., 2015Ru JY, Cong Y, Kang WB, Yu L, Guo T and Zhao JN (2015) Polymorphisms in TP53 are associated with risk and survival of osteosarcoma in a Chinese population. Int J Clin Exp Pathol 8:3198-3203.; Asai et al., 2019Asai T, Tsuchiya Y, Mishra K, Behari A, Shukla P, Ikoma T, Kapoor VK and Nakamura K (2019) Carcinogen Metabolism Pathway and Tumor Suppressor Gene Polymorphisms and Gallbladder Cancer Risk in North Indians: A Hospital-Based Case-Control Study. Asian Pac J Cancer Prev 20: 3643-3647.; Fernández-Mateos et al., 2019Fernández-Mateos J, Seijas-Tamayo R, Adansa Klain JC, Pastor Borgoñón M, Pérez-Ruiz E, Mesía R, del Barco E, Salvador Coloma C, Rueda Dominguez A, Caballero Daroqui J et al. (2019). Genetic susceptibility in head and neck squamous cell carcinoma in a Spanish population. Cancers (Basel) 11:493.; Zhang et al., 2019Zhang G, Xu Q, Wang Z, Sun L, Lv Z, Liu J, Xing C and Yuan Y (2019) p53 protein expression affected by TP53 polymorphism is associated with the biological behavior and prognosis of low rectal cancer. Oncol Lett 18:6807-6821.; Ozola et al., 2019Ozola A, Ruklisa D and Pjanova D (2019) The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population. Oncol Lett 18:5225-5234.; Pouladi et al., 2019Pouladi N, Abdolahi S, Farajzadeh D and Hosseinpour Feizi MA (2019) Haplotype and linkage disequilibrium of TP53-WRAP53 locus in Iranian-Azeri women with breast cancer. PLoS One 14:e0220727.; Elshazli et al., 2020Elshazli RM, Toraih EA, Elgaml A, Kandil E and Fawzy MS (2020) Genetic polymorphisms of TP53 (rs1042522) and MDM2 (rs2279744) and colorectal cancer risk: An updated meta-analysis based on 59 case-control studies. Gene 734:144391.; Kamiza et al., 2020Kamiza AB, Kamiza S, Singini MG and Mathew CG (2020) Association of TP53 rs1042522 with cervical cancer in the sub-Saharan African population: A meta-analysis. Trop Med Int Health 25:666-672.; Liu et al., 2020Liu P, Zhuo ZJ, Zhu J, Yang Z, Xin Y, Li S, Li L, Li Y, Wang H and He J (2020) Association of TP53 rs1042522 C> G and miR‐34b/c rs4938723 T> C polymorphisms with hepatoblastoma susceptibility: A seven‐center case-control study. J Gene Med 22:e3182.) |
CTG (15.0%) |
1 |
28.29 |
0.258 |
0.93-1.0 |
ACG (14.6%) |
-0.97 |
25.27 |
0.258 |
0.89-1.0 |
ATG (11.0%) |
-0.95 |
72.4 |
0.606 |
0.9-0.98 |
HNF1B
|
CGG (49.3%) |
rs7501939
rs11651052
rs11658063
|
-0.95 |
72.4 |
0.606 |
0.9-0.98 |
rs7501939 (Setiawan et al., 2012Setiawan VW, Haessler J, Schumacher F, Cote ML, Deelman E, Fesinmeyer MD, Henderson BE, Jackson RD, Vöckler JS, Wilkens LR et al. (2012) HNF1B and endometrial cancer risk: Results from the PAGE study. PLoS One 7:e30390.; Chornokur, 2013aChornokur G, Han G, Tanner R, Lin HL, Lee Green B, Pow-Sang J and Phelan CM (2013a) High grade prostate intraepithelial neoplasia (PIN) is a PSA-independent risk factor for prostate cancer in African American men: Results from a pilot study. Cancer Lett 331:154-157.; Nikolić et al., 2014Nikolić ZZ, Branković AS, Savić-Pavićević DLJ, Preković SM, Vukotić VD, Cerović SJ, Filipović NN, Tomović SM, Romac SP, Brajušković GN et al. (2014) Assessment of association between common variants at 17q12 and prostate cancer risk-evidence from Serbian population and meta-analysis. Clin Transl Sci 7:307-313.; Kristiansen et al., 2015Kristiansen W, Karlsson R, Rounge TB, Whitington T, Andreassen BK, Magnusson PK, Fosså SD, Adami HO, Turnbull C, Haugen TB et al. (2015) Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor. Hum Mol Genet 24:4138-4146.; Ríos-Tamayo et al., 2016Ríos-Tamayo R, Lupiañez CB, Campa D, Hielscher T, Weinhold N, Martínez-López J, Jerez A, Landi S, Jamroziak K, Dumontet C et al. (2016) A common variant within the HNF1B gene is associated with overall survival of multiple myeloma patients: Results from the IMMEnSE consortium and meta-analysis. Oncotarget 7:59029-59048.; Oh et al., 2017aOh JJ, Lee SJ, Hwang JY, Kim D, Lee SE, Hong SK, Ho JN, Yoon S, Sung J, Kim WJ et al. (2017a) Exome-based genome-wide association study and risk assessment using genetic risk score to prostate cancer in the Korean population. Oncotarget 8:43934-43943. ; Tong et al., 2018Tong Y, Qu Y, Li S, Zhao F and Wang Y (2018) Cumulative evidence for relationships between multiple variants of HNF1B and the risk of prostate and endometrial cancers. BMC Med Genet 19:128. ) rs11651052 (Painter et al., 2015Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K et al. (2015) Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Hum Mol Genet 24:1478-1492.). Endometrial cancer risk rs11658063 (Jones et al., 2019Jones CC, Bradford Y, Amos CI, Blot WJ, Chanock SJ, Harris CC, Schwartz AG, Spitz MR, Wiencke JK, Wrensch MR et al. (2019) Cross-cancer pleiotropic associations with lung cancer risk in African Americans. Cancer Epidemiol Biomarkers Prev 28:715-723. ) |
CAG (10.8%) |
-0.95 |
72.4 |
0.606 |
0.9-0.98 |
TAC (31.5%) |
-0.96 |
79.96 |
0.688 |
0.92-0.99 |
TAG (6,8%) |
-0.95 |
51.56 |
0.453 |
0.89-0.99 |
BRCA1
|
TG (69.2%) |
rs16942
rs1799949
|
-0.99 |
101.43 |
0.868 |
0.96-1.0 |
rs16942 (Cox et al., 2011Cox DG, Simard J, Sinnett D, Hamdi Y, Soucy P, Ouimet M, Barjhoux L, Verny-Pierre C, McGuffog L, Healey S et al. (2011) Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum Mol Genet 20:4732-4747.; Heramb et al., 2015Heramb C, Ekstrøm PO, Tharmaratnam K, Hovig E, Møller P and Mæhle L (2015) Ten modifiers of BRCA1 penetrance validated in a Norwegian series. Hered Cancer Clin Pract 13:14.; Sagna et al., 2019Sagna T, Bonora E, Ouedraogo MNL, Fusco D, Zoure AA, Cyrille B, Florencia D, Gilbert KJ, Nayi Z, Zoenabo D et al (2019) Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso. Biomol Concepts 10:120-127. ) rs1799949 (Ricks-Santi et al., 2017Ricks-Santi L, McDonald JT, Gold B, Dean M, Thompson N, Abbas M, Wilson B, Kanaan Y, Naab TJ and Dunston G (2017) Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women. Ethn Dis 27:169-178.). Age at diagnosis |
CG (2.7%) |
-0.99 |
101.43 |
0.868 |
0.96-1.0 |
CA (27.9%) |
-0.99 |
101.43 |
0.868 |
0.96-1.0 |
GC (69.5%) |
rs4986764
rs4986765
|
1 |
56.42 |
0.526 |
0.96-1.0 |
rs4986764 (Ma et al., 2013Ma XD, Cai GQ, Zou W, Huang YH, Zhang JR, Wang DT and Chen BL (2013) First evidence for the contribution of the genetic variations of BRCA1-interacting protein 1 (BRIP1) to the genetic susceptibility of cervical cancer. Gene 524:208-213.; Ren et al., 2013Ren LP, Xian YS, Diao DM, Chen Y, Guo Q and Dang CX (2013) Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility. Genet Mol Res 12:5793-5801.; Shi et al., 2013Shi J, Tong J, Cai S, Qu X and Liu Y (2013) Correlation of the BACH1 Pro919Ser polymorphism with breast cancer risk: A literature‑based meta‑analysis and meta‑regression analysis. Exp Ther Med 6:435-444.; Oussalah et al., 2017Oussalah A, Avogbe PH, Guyot E, Chery C, Guéant-Rodriguez RM, Ganne-Carrié N, Cobat A, Moradpour D, Nalpas B, Negro F et al. (2017) Coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease. Oncotarget 8:62842-62857. ; Liu et al., 2018Liu D, Zheng Y, Wang M, Deng Y, Lin S, Zhou L,Yang P, Dai C, Xu P, Hao Q, Song D et al. (2018) Four common polymorphisms of BRIP1 (rs2048718, rs4988344, rs4986764, and rs6504074) and cancer risk: evidence from 13,716 cancer patients and 15,590 cancer-free controls. Aging (Albany NY), 10:266-277.) rs4986765 (Oussalah et al., 2017Oussalah A, Avogbe PH, Guyot E, Chery C, Guéant-Rodriguez RM, Ganne-Carrié N, Cobat A, Moradpour D, Nalpas B, Negro F et al. (2017) Coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease. Oncotarget 8:62842-62857. ) |
AC (11.7%) |
1 |
56.42 |
0.526 |
0.96-1.0 |
AT (18.8%) |
1 |
56.42 |
0.526 |
0.96-1.0 |
19p13 |
XRCC1
|
CTGC (33.5%) |
rs25487
rs25486
rs1799782
rs762507
|
-0.97 |
104.68 |
0.879 |
0.94-1.0 |
rs25487 (Roberts et al., 2011Roberts MR, Shields PG, Ambrosone CB, Nie J, Marian C, Krishnan SS, Goerlitz DS, Modali R, Seddon M, Lehman T et al. (2011) Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study. Carcinogenesis 32:1223-1230.; Jin et al., 2015Jin EH, Kim J, Lee S and Hong JH (2015) Association between polymorphisms in APE1 and XRCC1 and the risk of gastric cancer in Korean population. Int J Clin Exp Med 8:11484-11489.; Zhu et al., 2016Zhu G, Su H, Lu L, Guo H, Chen Z, Sun Z, Song R, Wang X, Li H and Wang Z (2016) Association of nineteen polymorphisms from seven DNA repair genes and the risk for bladder cancer in Gansu province of China. Oncotarget 7:31372-31383.; Alimu et al., 2018Alimu N, Qukuerhan A, Wang S, Abdurehim Y, Kuyaxi P, Zhang B and Yasheng Y (2018) The association between XRCC1 polymorphism and laryngeal cancer susceptibility in different ethnic groups in Xinjiang, China. Int J Clin Exp Pathol 11:4595-4604.; Smolarz and Romanowicz, 2018Smolarz B and Romanowicz H (2018) Association between single nucleotide polymorphism of DNA repair genes and endometrial cancer: A case-control study. Int J Clinical Exp Pathol 11:1732-1738.; Qiao et al., 2018Qiao L, Feng X, Wang G, Zhou B, Yang Y and Li M (2018) Polymorphisms in BER genes and risk of breast cancer: Evidences from 69 studies with 33760 cases and 33252 controls. Oncotarget 9:16220-16233.; Minina et al., 2019Minina VI, Bakanova ML, Soboleva OA, Ryzhkova AV, Titov RA, Savchenko YA, Sinitsky MY, Voronina EN, Titov VA and Glushkov AN (2019) Polymorphisms in DNA repair genes in lung cancer patients living in a coal-mining region. Eur J Cancer Prev 28:522-528.; Liu et al., 2019Liu GC, Zhou YF, Su XC and Zhang J (2019) Interaction between TP53 and XRCC1 increases susceptibility to cervical cancer development: A case control study. BMC Cancer 19:24.; Aboul Enein et al., 2020Aboul Enein AA, Khaled IAA, Khorshied MM, Abdel‐Aziz AO, Zahran N, El Saeed AM, Shousha HI and Abdel Rahman HA (2020) Genetic variations in DNA‐repair genes (XRCC1, 3, and 7) and the susceptibility to hepatocellular carcinoma in a cohort of Egyptians. J Med Virol 92:3609-3616.; Cai et al., 2020Cai W, Liu X, Li Y, Bi B, Liu L and Wang Z (2020) New sights on the associations between the XRCC1 gene polymorphisms and hepatocellular carcinoma susceptibility. J Cell Biochem 121:1005-1022.; Smolarz et al., 2019Smolarz B, Michalska MM, Samulak D, Romanowicz H and Wójcik L (2019) Polymorphism of DNA repair genes in breast cancer. Oncotarget 10:527-535.) rs25486 (Roberts et al., 2011Roberts MR, Shields PG, Ambrosone CB, Nie J, Marian C, Krishnan SS, Goerlitz DS, Modali R, Seddon M, Lehman T et al. (2011) Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study. Carcinogenesis 32:1223-1230.) rs1799782 (Alimu et al., 2018Alimu N, Qukuerhan A, Wang S, Abdurehim Y, Kuyaxi P, Zhang B and Yasheng Y (2018) The association between XRCC1 polymorphism and laryngeal cancer susceptibility in different ethnic groups in Xinjiang, China. Int J Clin Exp Pathol 11:4595-4604.; Bashir et al., 2018Bashir K, Sarwar R, Fatima S, Saeed S, Mahjabeen I and Akhtar Kayani M (2018) Haplotype analysis of XRCC1 gene polymorphisms and the risk of thyroid carcinoma. J BUON 23:234-243.; Li et al., 2018Li Q, Ma R and Zhang M (2018) XRCC1 rs1799782 (C194T) polymorphism correlated with tumor metastasis and molecular subtypes in breast cancer. Onco Targets Ther 11:8435-8444.; Zhu et al., 2018Zhu J, Qi P and Li Z (2018) Interaction Between XRCC1 Gene Polymorphisms and Obesity on Susceptibility to Papillary Thyroid Cancer in Chinese Han Population. Cell Physiol Biochem 49:638-644.; Cai et al., 2020Cai W, Liu X, Li Y, Bi B, Liu L and Wang Z (2020) New sights on the associations between the XRCC1 gene polymorphisms and hepatocellular carcinoma susceptibility. J Cell Biochem 121:1005-1022.) rs762507 (Sacerdote et al., 2013Sacerdote C, Guarrera S, Ricceri F, Pardini B, Polidoro S, Allione A, Critelli R, Russo A, Andrew AS, Ye Y et al. (2013) Polymorphisms in the XRCC1 gene modify survival of bladder cancer patients treated with chemotherapy. Int J Cancer 133:2004–2009. ) Bladder cancer survival |
TCGC (28.0%) |
1 |
4.67 |
0.036 |
0.67-1.0 |
CTGT (27.6%) |
1 |
15.43 |
0.152 |
0.89-1.0 |
CTAC (8.2%) |
1 |
4.99 |
0.039 |
0.69-1.0 |
CCGC (2.1%) |
1 |
16.28 |
0.164 |
0.9-1.0 |
ERCC2
|
TG (78.2%) |
rs13181
rs1052555
|
1 |
59.91 |
0.622 |
0.96-1.0 |
rs13181 (Dai et al., 2019bDai L, Tao H, Xiong G, Guan X, Bai Y and Xu X (2019a) Association between intronic polymorphisms of XRCC1, ERCC2 and LIG1 genes and risk of esophageal squamous cell carcinoma in a Chinese Han population. Int J Clin Exp Med 12:2710-2719.; Fernández-Mateos et al., 2019Fernández-Mateos J, Seijas-Tamayo R, Adansa Klain JC, Pastor Borgoñón M, Pérez-Ruiz E, Mesía R, del Barco E, Salvador Coloma C, Rueda Dominguez A, Caballero Daroqui J et al. (2019). Genetic susceptibility in head and neck squamous cell carcinoma in a Spanish population. Cancers (Basel) 11:493.; Li et al., 2019Li W, Zhang M, Huang C, Meng J, Yin X and Sun G (2019) Genetic variants of DNA repair pathway genes on lung cancer risk. Pathol Res Pract 215:152548.; Smolarz et al., 2019Smolarz B, Michalska MM, Samulak D, Romanowicz H and Wójcik L (2019) Polymorphism of DNA repair genes in breast cancer. Oncotarget 10:527-535.; Balkan et al., 2020Balkan E, Bilici M, Gundogdu B, Aksungur N, Kara A, Yasar E, Dogan H and Ozturk G (2020) ERCC2 Lys751Gln rs13181 and XRCC2 Arg188His rs3218536 Gene Polymorphisms Contribute to Susceptibility of Colon, Gastric, Liver, Lung and Prostate Cancer. J BUON 25:574-581.; Tavares et al., 2020Tavares CB, Alves-Ribeiro FA, Nery Junior EDJ, de Vasconcelos-Valença RJ, Campos-Verdes LC, Gomes FDCSA, Lopes-Costa PV, Santos AR, Pinho-Sobral AL, Campelo V et al. (2020) Association of XRCC1 rs1799782 and ERCC2 rs13181 Polymorphisms with Glioma Risk: A Systematic Review and Meta-Analysis. Research Square. DOI: 10.21203/rs.3.rs-56338/v1. https://doi.org/10.21203/rs.3.rs-56338/v...
; Salimzadeh et al., 2020Salimzadeh H, Lindskog EB, Gustavsson B, Wettergren Y and Ljungman D (2020) Association of DNA repair gene variants with colorectal cancer: risk, toxicity, and survival. BMC Cancer 20:409.; Zhao et al., 2019Zhao Y, Zhao E, Zhang J, Chen Y, Ma J and Li H (2019) A comprehensive evaluation of the association between polymorphisms in XRCC1, ERCC2, and XRCC3 and Prognosis in Hepatocellular Carcinoma: A Meta-Analysis. J Oncol 2019:2408946.) rs1052555 (Yang et al., 2005Yang P, Kollmeyer TM, Buckner K, Bamlet W, Ballman KV and Jenkins RB (2005) Polymorphisms in GLTSCR1 and ERCC2 are associated with the development of oligodendrogliomas. Cancer 103:2363-2372.; Li et al., 2020Li YK, Xu Q, Sun LP, Gong YH, Jing JJ, Xing CZ and Yuan Y (2020) Nucleotide excision repair pathway gene polymorphisms are associated with risk and prognosis of colorectal cancer. World J Gastroenterol 26:307-323.) |
GG (7.0%) |
1 |
59.91 |
0.622 |
0.96-1.0 |
GA (14.8%) |
1 |
59.91 |
0.622 |
0.96-1.0 |
ERCC1
|
AGCT (45.3%) |
rs1046282
rs2336219
rs3212986
rs3212980
|
1 |
9.21 |
0.132 |
0.83-1.0 |
rs1046282 (Yin et al., 2013Yin J, Vogel U, Wang H, Ma Y, Wang C, Liang D, Liu J, Yue L, Zhao Y and Ma J (2013) HapMap-based study identifies risk sub-region on chromosome 19q13. 3 in relation to lung cancer among Chinese. Cancer Epidemiol 37:923-929.) rs2336219 (Ricci et al., 2010Ricci-Vitiani L, Pallini R, Biffoni M, Todaro M, Invernici G, Cenci T, Maira G, Parati EA, Stassi G, Larocca LM et al. (2010) Tumour vascularization via endothelial differentiation of glioblastoma stem-like cells. Nature 468:824-828.; Dai et al., 2019aDai P, Li J, Li W, Qin X, Wu X, Di W and Zhang Y (2019b) Genetic polymorphisms and pancreatic cancer risk: A PRISMA-compliant systematic review and meta-analysis. Medicine (Baltimore) 98:e16541.) rs3212986 (He et al., 2018Hartman ML and Czyz M (2015) MITF in melanoma: Mechanisms behind its expression and activity. Cell Mol Life Sci 72:1249-1260. ; Chaszczewska-Markowska et al., 2019Chaszczewska-Markowska M, Kosacka M, Chryplewicz A, Dyła T, Brzecka A and Bogunia-Kubik K (2019) ECCR1 and NFKB2 Polymorphisms as Potential Biomarkers of Non-small Cell Lung Cancer in a Polish Population. Anticancer Res 39:3269-3272.; Gholami et al., 2019Gholami M, Larijani B, Sharifi F, Hasani‐Ranjbar S, Taslimi R, Bastami M, Atlasi R and Amoli MM (2019) MicroRNA‐binding site polymorphisms and risk of colorectal cancer: A systematic review and meta‐analysis. Cancer Med 8:7477-7499.; Yang et al., 2019Yang F, Mu X, Bian C, Zhang H, Yi T, Zhao X and Lin X (2019) Association of excision repair cross‐complimentary group 1 gene polymorphisms with breast and ovarian cancer susceptibility. J Cell Biochem 120:15635-15647.; Bao et al., 2020Bao Y, Yang B, Zhao J, Shen S and Gao J (2020) Role of common ERCC1 polymorphisms in cisplatin‐resistant epithelial ovarian cancer patients: A study in Chinese cohort. Int J Immunogenet 47:443-453.; Grenda et al., 2020Grenda A, Błach J, Szczyrek M, Krawczyk P, Nicoś M, Kuźnar Kamińska B, Jakimiec M, Balicka G, Chmielewska I, Batura-Gabryel H et al. (2020) Promoter polymorphisms of TOP2A and ERCC1 genes as predictive factors for chemotherapy in non‐small cell lung cancer patients. Cancer Med 9:605-614.) rs3212980 (Yin et al., 2013Yin J, Vogel U, Wang H, Ma Y, Wang C, Liang D, Liu J, Yue L, Zhao Y and Ma J (2013) HapMap-based study identifies risk sub-region on chromosome 19q13. 3 in relation to lung cancer among Chinese. Cancer Epidemiol 37:923-929.). |
AACT (21.5%) |
-0.95 |
84.59 |
0.791 |
0.91-0.98 |
GGAG (28.4%) |
1 |
94.38 |
0.829 |
0.97-1.0 |
GGCT (3.8%) |
1 |
7.82 |
0.114 |
0.79-1.0 |