Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519911
rs1057519911
0.710 GeneticVariation BEFREE The HNSCC cells with MAPK1 E322K exhibited enhanced EGFR phosphorylation and erlotinib sensitivity compared with wild-type MAPK1 cells. 26181029

2015

dbSNP: rs1057519991
rs1057519991
0.710 GeneticVariation BEFREE Combinations of the Y113H and H139R polymorphic EPHX1 variants have been assumed to alter the enzyme activity and thus the risk of squamous cell head and neck cancer (SCCHN). 12491039

2003

dbSNP: rs121912656
rs121912656
0.710 GeneticVariation BEFREE We show here that overexpression of the GOF mutant p53 G245D and other GOF p53 mutants enhances the invasive cell growth of p53-deficient head and neck squamous cell carcinoma (HNSCC) UM-SCC-1 cells both in in vitro three-dimensional culture and in an in vivo orthotopic nude mouse model of HNSCC through a novel transcription-independent mechanism. 29269868

2018

dbSNP: rs121912666
rs121912666
0.710 GeneticVariation BEFREE Our analysis of p53 in 10 additional HLA-A2(+) SCCHN tumors detected the p53 Y220C in 2/10 tumors raising the overall frequency of the p53 Y220C mutation to 6/50 (12%) HLA-A2(+) SCCHN tumors. 17294448

2007

dbSNP: rs121913483
rs121913483
0.710 GeneticVariation BEFREE PIK3CA showed a uniquely high rate of mutations within the helicase domain, and FGFR3 contained a predominance of hotspot S249C alterations that were not found in HPV- HNSCC. 30933315

2019

dbSNP: rs1799782
rs1799782
0.060 GeneticVariation BEFREE In conclusion, the result from our study provides additional evidence of an association of the XRCC1 polymorphism (Arg194Trp) with SCCHN as markers of genetic susceptibility in the Korean population. 15252855

2004

dbSNP: rs1799782
rs1799782
0.060 GeneticVariation BEFREE Finally, we identified the combined Arg194Trp-Arg399Arg genotype of base excision repair gene XRCC1 that was associated with HNSCC and may have an impact on identification of a high-risk cancer population. 19284666

2009

dbSNP: rs1799782
rs1799782
0.060 GeneticVariation BEFREE These results indicate that both Arg194Trp and Arg399Gln polymorphisms were not associated with the development of HNSCC in Turkish population. 26011347

2015

dbSNP: rs1799782
rs1799782
0.060 GeneticVariation BEFREE In addition, the interaction of CYP2E1 (CYP2E1*5B and CYP2E1*6) with other genetic factors (null genotype of glutathione-S-Transferase M1, GSTM1, X-Ray Repair Cross Complementing Group I, XRCC1 (Arg194Trp), and environmental risk factors such as alcohol and tobacco in modifying HNSCC risk were investigated. 19334053

2009

dbSNP: rs1799782
rs1799782
0.060 GeneticVariation BEFREE We evaluated the correlation of the x-ray repair cross complementing gene 1 (XRCC1) Arg194Trp polymorphism with clinical outcomes in head and neck squamous cell carcinoma (HNSCC) patients treated with concurrent chemoradiation therapy (CCRT). 29893275

2018

dbSNP: rs1799782
rs1799782
0.060 GeneticVariation BEFREE In XRCC1 polymorphisms, Arg194Trp and Arg399Gln variants showed a reduced risk, whereas, XPD Lys751Gln variants exhibited ∼2-fold increase in SCCHN risk. 21945240

2012

dbSNP: rs1042522
rs1042522
0.050 GeneticVariation BEFREE Stratification analyses showed that a reduced risk associated with the -606CC genotype was more pronounced in subgroups of non-smokers, non-drinkers, younger subjects (defined as ≤57 years), carriers of the TP53 Arg/Arg (rs1042522) genotype, patients with oropharyngeal cancer or late-stage SCCHN. 20935061

2010

dbSNP: rs1042522
rs1042522
0.050 GeneticVariation BEFREE We found that RAD51 172TT homozygotes had a significantly decreased risk [adjusted odds ratio (OR) = 0.66, 95% confidence interval (CI) = 0.50-0.87] of SCCHN, compared with carriers of other genotypes, particularly in P53 Arg72Arg homozygotes (adjusted OR = 0.60, 95% CI = 0.41-0.89) (homogeneity test P = 0.047), although no alterations in the risk were associated with the RAD51 135G>C and P53 Arg72Pro SNPs. 17118968

2007

dbSNP: rs1042522
rs1042522
0.050 GeneticVariation BEFREE This study identified that individuals carrying the arginine allele at rs1042522 have an increased odds ratio of HNSCC. 26099726

2015

dbSNP: rs1042522
rs1042522
0.050 GeneticVariation BEFREE Meta-analysis results indicated no association between p53 Arg72Pro polymorphism and the risk of HPV-related HNSCC: for Pro/Pro vs. Arg/Arg, OR = 1.17, 95% confidence interval (CI) = 0.70-1.98; for Arg/Pro vs. Arg/ Arg, OR = 1.25, 95% CI = 0.97-1.72; and for (Pro/Pro + Arg/Pro) vs. Arg/Arg, OR = 1.28, 95% CI = 0.95-1.70. 24289637

2013

dbSNP: rs1042522
rs1042522
0.050 GeneticVariation BEFREE The meta-analysis showed no significant association between different allelic variants of Arg72Pro rs1042522 and SCCHN risk. 24370206

2014

dbSNP: rs1695
rs1695
0.050 GeneticVariation BEFREE GSTM1, GSTT1 and GSTP1 Ile105Val polymorphisms in outcomes of head and neck squamous cell carcinoma patients treated with cisplatin chemoradiation. 31249357

2019

dbSNP: rs1695
rs1695
0.050 GeneticVariation BEFREE We hypothesized that head and neck squamous cell carcinoma (HNSCC) might respond differently to chemotherapeutic agents, especially cisplatin (CDDP) because of the presence of GSTP1 I105V polymorphism. 15254763

2004

dbSNP: rs1695
rs1695
0.050 GeneticVariation BEFREE We investigated the association between the occurrence of acute reactions in 101 patients with squamous cell carcinoma of the head and neck (SCCHN) after radiotherapy (RT) and five genetic polymorphisms: XRCC1 c.1196A>G, XRCC3 c.722C>T, RAD51 (c.-3429G>C, c.-3392G>T), and GSTP1 c.313A>G. 21704413

2011

dbSNP: rs1695
rs1695
0.050 GeneticVariation BEFREE This large prospective cohort study supports a modestly increased risk of SPM after index SCCHN with GSTP1 Ile(105)Val polymorphism and an even greater risk of SPM with multiple combined GST risk genotypes. 19401526

2009

dbSNP: rs1695
rs1695
0.050 GeneticVariation BEFREE ADH1B histidine allele (rs1229984), CYP2E1 rs3813867 heterozygous genotype, and GSTT1 deletion conferred protection against HNSCC (OR: 0.318 [0.04-0.75], OR: 0.13 [0.02-0.94], and OR: 0.12 [0.02-0.60], respectively) while GSTP1 (rs1695) Val/Val genotype was related to an increased risk (OR: 4.12 [1.11-15.31]). 25639971

2015

dbSNP: rs25487
rs25487
0.050 GeneticVariation BEFREE The findings indicated that a significantly decreased risk of SCCHN was associated with the ADPRT 762Ala/Ala genotype (adjusted odds ratio [OR], 0.51; 95% confidence interval [95% CI], 0.27-0.97) and the combined ADPRT 762Ala/Val and Ala/Ala genotypes (OR, 0.79; 95% CI; 0.63-1.00) compared with the ADPRT 762Val/Val genotype, but no altered risk was associated with the XRCC1 Arg399Gln or APE Asp148Glu polymorphisms, and no evidence of interactions was observed between the 3 selected SNPs and age, sex, smoking status, drinking status, or tumor site. 17614107

2007

dbSNP: rs25487
rs25487
0.050 GeneticVariation BEFREE These results indicate that both Arg194Trp and Arg399Gln polymorphisms were not associated with the development of HNSCC in Turkish population. 26011347

2015

dbSNP: rs25487
rs25487
0.050 GeneticVariation BEFREE The results from this present meta-analysis suggest that XRCC1 Arg399Gln variants may contribute to HNSCC risk among Caucasians and to the risk of larynx squamous cell carcinoma. 24205020

2013

dbSNP: rs25487
rs25487
0.050 GeneticVariation BEFREE Our findings showed an association between genetic polymorphisms, XRCC1 c.1196A>G and RAD51 c.-3429 G>C, and the development of radiation-induced toxicities in SCCHN patients. 21704413

2011