Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis. 26991782

2016

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE We analyzed the association between p.</span>I157T and the clinico-pathological breast cancer characteristics by comparing the p.I157T carrier tumors to non-carrier and c.1100delC carrier tumors. 27716369

2016

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE In total, 26,336 cases and 44,219 controls from 18 case-control studies were used in this meta-analysis, and significant associations of the CHEK2 I157T variant with cancer susceptibility were found (OR, 1.39; 95% CI, 1.19-1.63; p<0.0001), breast cancer (OR=1.58, 95% CI=1.42-1.75, p<0.00001) and colorectal cancer (OR=1.67, 95% CI=1.24-2.26, p=0.0008). 23713947

2013

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE Our research indicates that the CHEK2 I157T variant may be another important genetic mutation which increases risk of breast cancer, especially the lobular type. 22799331

2012

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE Comparing the prevalence of CHEK2 mutations in BC with controls revealed that carriers of an I157T variant had OR of 1.80 for luminal A subtype and carriers of truncating mutations had OR of 6.26 for luminal B subtype of BC. 21701879

2012

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE Seven thousand four hundred ninety-four BRCA1 mutation-negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T). 21876083

2011

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE Our study suggests that the risk of breast cancer in carriers of a deleterious CHEK2 mutation is increased if the second allele is the I157T missense variant. 18930998

2009

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE Modest increases of breast cancer risk were observed for the four analysed CHEK2 variants (I157T, 1100delC, IVS2 + 1G > A and del5395) (OR = 2.2; 95% 1.7-2.8; P = 0.0001). 19030985

2009

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE Despite the lack of association of I157T mutation with breast cancer development in our population we deduced that the FHA domain is the subject of rare population-specific alterations that might modify risk of various cancers. 18058223

2008

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE Protein-truncating mutations in CHEK2 have been reported to confer higher risks of cancer of the breast and the prostate than the missense I157T variant. 17106448

2007

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE The frequency, penetrance and epidemiological as well as clinical significance of the two most studied breast cancer-predisposing variants of the CHEK2 gene, 1100delC and I157T, are highlighted in more depth, and additional CHEK2 mutations and their cancer relevance are discussed as well. 16998506

2006

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE There was no significant overall association between CHEK2 and breast cancer (OR = 1.3; p = 0.30), but among those with lobular carcinoma the association with the I157T missense mutation was very strong (OR = 6.6; p > 0.0001). 15803365

2005

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE Our data indicate that the I157T allele, and possibly the IVS2+1G > A allele, of the CHEK2 gene contribute to inherited breast cancer susceptibility. 15810020

2005

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE Interestingly, we found no increased breast cancer risk associated with the splice site mutation IVS2+1G-->A or the most common missense mutation I157T, which account for more than half (12/21) of the variants observed in patients. 15095295

2004

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC. 15239132

2004

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE The missense variant I157T was associated with an increased risk of breast cancer (OR 1.4; P=.02), colon cancer (OR 2.0; P=.001), kidney cancer (OR 2.1; P=.0006), prostate cancer (OR 1.7; P=.002), and thyroid cancer (OR 1.9; P=.04). 15492928

2004

dbSNP: rs17879961
rs17879961
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE To evaluate the possible association of R117G and two germline variants reported elsewhere, R145W and I157T with breast cancer, we screened 737 BRCA1/2-negative familial breast cancer cases from 605 families, 459 BRCA1/2-positive cases from 335 families, and 723 controls from the United Kingdom, the Netherlands, and North America. 12610780

2003

dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE In summary, our findings suggested that the rs2046210 polymorphism may serve as a potential genetic biomarker of BC in both Asians and Caucasians. 30693664

2019

dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE The other two SNPs (rs2046210 and rs3734805) were strongly associated with susceptibility to breast cancer. 27525837

2016

dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE The genotype of rs2046210 (6q25.1), rs2981582 (EGFR2), rs889312 (MAP3K1), and rs3803662 (TOX3/TNRC9) has no statistical differences in different subtypes of breast cancer. 26803517

2016

dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE In a genome-wide association study conducted among Chinese women, we identified the single nucleotide polymorphism (SNP) rs2046210 at 6q25.1 for breast cancer risk. 26645718

2016

dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE Furthermore, C6ORF97 showed significant worse prognostic values especially in luminal B subtype in the publically available data sets. rs2046210 and the upstream gene C6ORF97 might have substantial roles not only in carcinogenesis but also in progression toward a more aggressive phenotype in breast cancer patients, which suggests that functional studies of this locus are imperative. 25370037

2015

dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE Five of the 17 SNPs were significantly associated (P ≤ 0.05) with overall breast cancer in the same direction as previously reported: rs13387042 (2q35/TNP1), rs4973768 (3p24/SLC4A7), rs2046210 (6q25/ESR1), rs1219648 (10q26/FGFR2), and rs4784227 (16q12/TOX3). 24510657

2015

dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE The results indicated that both polymorphisms were significantly associated with the risk of breast cancer, with per allele OR = 1.35, (95%CI = 1.17-1.57) for rs2046210 and per allele OR = 1.24 (95%CI = 1.06-1.45) for rs4784227. 25531440

2014

dbSNP: rs2046210
rs2046210
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 GeneticVariation BEFREE The present meta-analysis demonstrated that the rs2046210 polymorphism may be associated with increased BC susceptibility, but this association varies in different ethnicities. 23785413

2013