Table 8 Top 3’ UTR SNVs in breast
Gene | dbSNP ID | Locus (Chr:bp) | Variant | Class | Description |
|---|---|---|---|---|---|
CDKN2A | rs11515 | 9:21968199 | C →G | TR- | Moderate association with breast cancer risk [24]; rs11515 is associated with poor survival in patients with glioblastoma multiforme [71] |
AP2M1 | NA | 3:183901795 | T →C | ER+ | Over-expressed in espohageal squamous cell carcinoma [22] |
LRRC56 | rs10902172 | 11:554299 | C →G | ER+ | Uncharacterized in humans [68] |
SEC22A | rs4234210 | 3:122990805 | G →A | TR- | Vesicle trafficking protein [68] |
MTG1 | rs2255262 | 10:135234078 | A →G | ER+ | GTPase associated with ERBB4, which is associated with advanced NSCLC [55] |
BTBD3 | rs6660 | 20:11907058 | C →T | TR- | Targeted by hsa-let-7i during colorectal cancer metastasis [87] |
NOTCH1 | rs6563 | 9:139389184 | A →G | TR- | Promotes recurrence in breast cancer [1] |
ZNF74 | rs887023 | 22:20761899 | C →T | TR- | Zinc finger protein [68] |
IKBKE | rs1057741 | 8:42188550 | A →G | ER+ | Breast cancer oncogene [10]; upregulated in triple negative breast cancers [6] |
ZNF552 | NA | 19:58319085 | T →C | ER+ | Zinc finger protein [68] |
TRAPPC10 | rs2516524 | 21:45525899 | A →G | TR- | Transmembrane protein [68] |
PDXK | rs4819309 | 21:45178438 | C →A | TR- | Associated with breast cancer relapse and metastasis [35] |
LAMB1 | rs7561 | 7:107564366 | T →G | TR- | Identified as a secretome biomarker of breast cancer [85] |
COL1A1 | NA | 17:48261525 | A →T | ER+ | Upregulated in progesterone receptor positive patients [50] |
QSOX2 | rs10117333 | 9:139099451 | A →C | TR- | Upregulated in glioblastoma patients [5] |