Table 1.
XPA SNPs and their cancer relevance.
| SNP ID | Location | Allelic Variant | Effect | Association with Cancer Risk | Response to Therapy | Reference |
|---|---|---|---|---|---|---|
| rs2808668 | 5′-UTR | T/C | Binding of transcription factors | No association with cancer risk within overall analysis; Decreased cancer risk with the exception of digestive system cancer in subgroup analysis; No association with OSCC risk and/or prognosis |
NA | [156,160] |
| rs10817938 | 5′-UTR | T/C | Binding of transcription factors; Decreased transcription of the XPA gene | Homozygous CC genotype, C allele, and CC/CT genotype in dominant setting associates with an increased cancer risk within overall analysis; TC and CC genotypes display higher risk of developing OSCC compared to the TT genotype; It associates with HCC risk in stage 1, where the CC genotype displays an increased risk of HCC compared with the TT wild-type and TT plus TC genotype; It contributes to an increased CRC risk in its variant homozygote and recessive model both in overall and stratification analyses |
CT and TT genotypes have longer OS in CRC patients receiving oxaliplatin-based chemotherapy | [155,156,160,161,162] |
| rs1800975 | 5′-UTR | A/G | Binding of 40S ribosomal subunit | No association with BC risk in the pooled analysis for all genetic settings; In subgroup analysis, it decreases BC risk in some ethnic groups; GG genotype shows an increased LC risk in some ethnic groups; When combined with rs3176752, it increases neuroblastoma risk; It contributes to a risk from basal and SCC, oral SCC, and OC; AG and GG genotypes significantly decrease the ESCC risk compared to AA genotype; No association with risk of testicular, prostate, and gastric cancers, CRC, SCC of the oropharynx, and melanoma |
No association with chemotherapy efficacy and prognosis in EC; Homozygous GG genotype shows a higher response rate than the GA or AA genotype in LC; The GA and AA genotype has an increased risk of death in inoperable LC treated with radiotherapy with or without platinum-based chemotherapy; It plays an important role in response to radiotherapy in HNSCC; The AG genotype imposes with a higher risk of mortality after cancer treatment compared with the GG genotype; No association with OS or disease progression regarding clinical outcome to 5-fluorouracil/oxaliplatin combination therapy in refractory CRC |
[154,155,159,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,185,191,192,193] |
| rs3176658 | Intron | C/T | - | Modest association with LC risk | Significantly associates with PFS in LC; Significantly associates with the response to neoadjuvant radiochemotherapy treatment of locally advanced rectal cancer |
[188,189,190] |
| rs3176721 | Intron | C/A | - | NA | Significantly associates with toxicity and efficiency of platinum-based chemotherapy in LC | [188] |
| rs2808667 | Intron | T/C | - | Association with risk of EC | NA | [194] |
| - | Intron | G709A | - | A significant protective effect in AG heterozygotes in LC | [165,167] | |
| rs3176752 | 3′-UTR | G/T | Binding of microRNA | When combined with rs1800975, it increases neuroblastoma risk | NA | [191] |
BC, breast cancer; CRC, colorectal cancer; EC, endometrial cancer; ESSC, esophageal squamous cell carcinoma; HCC, hepatocellular carcinoma; HNSCC, head and neck squamous cell carcinoma; LC, lung cancer; NA, not analysed; OS, overall survival; OSCC, oral squamous cell carcinoma; PFS, progression-free survival; SCC, squamous cell carcinoma; UTR, untranslated region.