Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). 22452962 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE In conclusion, we show that there is little overlap between the breast cancer risk single nucleotide polymorphisms (SNPs) identified so far and the SNPs associated with breast cancer prognosis, with the possible exceptions of LSP1-rs3817198 and TNRC9-rs3803662. 25611573 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease CTD_human Genome-wide association study identifies novel breast cancer susceptibility loci. 17529967 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE TOX3-rs3803662 SNP was associated with breast cancer risk in our study (T vs. C allele contrast model: OR 1.36, 95% CI 1.12-1.64, P<sub>value</sub> = 0.002; TT vs. CT + TT dominant model: OR 0.67, 95% CI 0.51-0.87, P<sub>value</sub> = 0.003; TT vs. CT + CC recessive model: OR 1.54, 95% CI 1.02-2.30, P<sub>vlue</sub> = 0.036). 30515698 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE In the present case-control study of 1,049 breast cancer patients and 1,073 cancer-free controls in a Chinese population, we genotyped three polymorphisms (rs3803662C/T, rs12443621A/G, and rs8051542C/T) of the TNRC9 gene using the SNPstream 12-plex platform to test the hypothesis that these SNPs are associated with breast cancer risk in this population. 20213080 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE We investigated whether TNRC9 polymorphisms are associated with risk of breast cancer in Chinese women of the Han nationality. 24446301 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE ORs with 95% CI were used to assess the strength of association between TOX3 polymorphisms and breast cancer risk in fixed or random effect model. 26239137 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE The results suggest that the effect of the risk allele of rs3803662 is strongest in luminal A tumours and that the expression levels of TOX3 and/or LOC643714 affect the progression of breast cancer. 23270421 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE In conclusion, except for the association of rs13283662 with TOX3 gene expression indicating a tumor suppressor role of TOX3, our findings suggest that breast cancer low-risk loci generally do not affect expression of the nearest gene in breast tumor tissue. 21748294 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE In the study, to test our hypothesis that the previously identified breast cancer risk-associated genetic polymorphisms at the TOX3/LOC643714 locus might contribute to lung cancer risk, 16 SNPs at the TOX3/LOC643714 locus were evaluated in a Han Chinese population based on a case-control study. 27486757 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE The results of the present study suggest that variants of FGFR2 and TNRC9 may contribute to the genetic susceptibility of BC in Pakistani women. 27572905 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10(-11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). 21118973 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE When we expanded to regions, the 3p24.1 region showed an association with breast cancer risk (permutation based P = 0.027) and three regions (10p15.1, 10q26.13/FGFR2, and 16q12.2/TOX3) showed a trend toward association. 21795501 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE A recent genome-wide association study has shown that common alleles at single nucleotide polymorphisms (SNPs) in FGFR2 (rs2981582), TNRC9 (rs3803662), and MAP3K1 (rs889312) are associated with increased breast cancer risks in the general population. 18355772 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE The synonymous TNRC9/TOX3 (Ser51) variant was present at a significantly lower frequency than in patients with familial BRCA1/2 positive breast cancer (P = 0.0002). 20502973 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE These results indicate an additive effect of the TOX3 rs3803662 and 2q35 rs13387042 alleles for BC risk. 24532140 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE ER-TOX3/TNRC9 is the best possible pathway involved in the pathogenesis of breast cancer. 31317673 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE In this study, we investigated whether single nucleotide polymorphisms (SNPs) identified by genome-wide association study (GWAS) (MAP3K1, FGFR2, TNRC9, HCN1, and 5p12), and SNPs involved in the metabolism of estrogen (CYP19, COMT, ESR1, and UGT1A1), tamoxifen (CYP2C9, CYP2C19, CYP3A5, and CYP2D6), and chemotherapeutic agents (ABCB1, ALDH3A1, and CYP2B6) are associated with the prognoses of 414 hormone receptor (HR)-positive early breast cancers with negative or 1 to 3 nodal metastases. 28178648 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE At present, no genes have been identified in the linkage disequilibrium block containing rs13387042. rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone. 17529974 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE This study confirms that susceptibility variants in FGFR2, TOX3 and MAP3K1 and on chromosome 8q are all associated with increased risk of cancer in individuals with a family history of breast cancer, whereas CASP8 is protective in this context. 19617217 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE The aim of the present study was to estimate the heritability (h<sup>2</sup>) of breast cancer susceptibility through the analysis of 6 single nucleotide polymorphisms (SNPs), nuclear mitotic apparatus protein 1, cyclin D1, cytochrome C oxidase copper chaperone, fibroblast growth factor receptor 2, TOX high mobility group box family member 3 and solute carrier family 4 member 7. 28943953 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE Recently, genetic polymorphism (rs3803662C>T) in TOX3 was reported to induce the risk of breast cancer. 24069142 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE BC patients (n = 1687) randomly sampled in an adjuvant, randomized phase III trial (SUCCESS A study) were genotyped for nine BC risk SNPs: rs17468277 <i>(CASP8)</i> , rs2981582 <i>(FGFR2)</i> , rs13281615(8q24), rs3817198 <i>(LSP1)</i> , rs889312 <i>(MAP3K1)</i> , rs3803662 <i>(TOX3)</i> , rs13387042(2q35), rs4973768 <i>(SLC4A7)</i> , rs6504950 <i>(COX11)</i> . 28757652 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE A comprehensive search was performed to identify all suitable studies involving the TNRC9 rs3803662 polymorphism and BC risk. 27525937 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE These findings suggest that the genetic variants at chromosome 6q25 and in the TOX3 gene may play important roles in breast cancer development in a Chinese population and the underlying biological mechanisms need to be further elucidated. 25531440 2014