Gene | dbSNP ID | Locus (Chr:bp) | Variant | Class | Description |
---|---|---|---|---|---|
HFM1 | NA | 1:91852851 | A →G | ER+ | A DNA helicase that is specifically expressed in germline cells [75] |
EML4 | rs7233 | 2:42396722 | A →G | TR- | EML4-ALK mutants are frequently found in NSCLC and some breast cancers [69] |
ARHGEF16 | rs4534324 | 1:3394674 | T →C | ER+ | Promotes migration and invasion of breast cancer cells [29] |
LRRC56 | rs7396875 | 11:551405 | G →A | ER+ | Uncharacterized in humans [68] |
LMNTD2 | rs936466 | 11:557342 | T →C | ER+ | Uncharacterized lamnin tail containing domain protein [68] |
CTBP1 | rs1250100 | 4:1236182 | A →G | ER+ | Downregulates BRCA and E-cadherin in breast cancer, potential biomarker for cancer development [23] |
HDAC7 | rs3815138 | 12:48178465 | T →C | ER+ | Promotes breast cancer cell survival and therapy resistance by inhibiting autophagic cell death [80] |
SNED1 | rs6715941 | 2:241993027 | C →T | ER+ | High expression is correlated with poor outcome for ER-/PR- breast cancer patients [61] |
CTBP2 | rs4962716 | 10:126685867 | T →C | ER+ | High expression is associated with E-cadherin and cellular proliferation in breast cancer [53] |
CD151 | rs28454516 | 11:833828 | G →A | ER+ | Deregulation is predictive of poor outcome in node-negative lobular breast carcinoma [70] |
DLG2 | rs4943920 | 11:85195154 | A →T | TR- | The location of DLG2 is a common fragile site and is under expressed in several cancers [57] |
ARHGEF16 | rs4422946 | 1:3394640 | A →G | ER+ | Promotes migration and invasion of breast cancer cells [29] |
OAZ1 | rs2523174 | 19:2271181 | T →C | ER+ | mRNA biomarker for oral cancer patients [20] |
GAA | rs12944802 | 17:78084418 | G →A | ER+ | Acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes [68] |
HDAC7 | rs3815132 | 12:48179048 | C →T | ER+ | Promotes breast cancer cell survival and therapy resistance by inhibiting autophagic cell death [80] |