Gene: CHEK2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17883862
rs17883862
CHEK2
0.010 GeneticVariation BEFREE Another recurrent mutation with attenuated in vitro function, CHEK2-P85L, is not associated with increased breast cancer susceptibility, but exhibits a striking difference in frequency across populations with different ancestral histories. 17721994

2007
dbSNP: rs200050883
rs200050883
CHEK2
0.010 GeneticVariation BEFREE The genetic variant c.1312G>T (p.D438Y) identified in a patient with a family history of breast cancer. 24390236

2014
dbSNP: rs200649225
rs200649225
CHEK2
0.010 GeneticVariation BEFREE The novel CHEK2 missense variant identified in this study, R406H, is unlikely to contribute to breast cancer risk in French Canadian women. 18706089

2008
dbSNP: rs200928781
rs200928781
CHEK2
0.010 GeneticVariation BEFREE In patients without family history, Y390C carriers tend to develop breast cancer early, before 35 years of age. 25619829

2015
dbSNP: rs201206424
rs201206424
CHEK2
0.010 GeneticVariation BEFREE We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). 27595995

2016
dbSNP: rs28909982
rs28909982
CHEK2
0.010 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: rs587780170
rs587780170
CHEK2
0.010 GeneticVariation BEFREE The genetic variant c.1312G>T (p.D438Y) identified in a patient with a family history of breast cancer. 24390236

2014
dbSNP: rs587780192
rs587780192
CHEK2
0.010 GeneticVariation BEFREE We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). 27595995

2016
dbSNP: rs587782527
rs587782527
CHEK2
0.010 GeneticVariation BEFREE The c.1216C>T mutation was found in a 34-year-old ovarian cancer patient from a family with two breast cancer cases. 23806170

2013
dbSNP: rs730881701
rs730881701
CHEK2
0.010 GeneticVariation BEFREE We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). 27595995

2016
dbSNP: rs766794072
rs766794072
CHEK2
0.010 GeneticVariation BEFREE The initial two stages, which involved up to 797 high-risk BC patients, 1504 consecutive BC cases, and 1081 healthy women, indicated a potentially BC-predisposing role for 6 candidates, i.e., USP39 c.*208G > C, PZP p.Arg680Ter, LEPREL1 p.Pro636Ser, SLIT3 p.Arg154Cys, CREB3 p.Lys157Glu, and ING1 p.Pro319Leu. 31754952

2020
dbSNP: rs77130927
rs77130927
CHEK2
0.010 GeneticVariation BEFREE We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). 27595995

2016
dbSNP: rs9620817
rs9620817
CHEK2
0.010 GeneticVariation BEFREE In addition, we found four low-frequency variants (rs8176085, rs799923, rs8176173 and rs8176258) in the BRCA1 gene, one common variant in the CHEK2 gene (rs9620817), and one common variant in the PALB2 gene (rs13330119) associated with breast cancer risk at P < 0.01. 28419251

2017
dbSNP: rs137853007
rs137853007
CHEK2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs555607708
rs555607708
CHEK2
A 0.700 CausalMutation CLINVAR

dbSNP: rs17879961
rs17879961
CHEK2
G 0.900 GeneticVariation CLINVAR

dbSNP: rs17879961
rs17879961
CHEK2
G 0.900 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017
dbSNP: rs17879961
rs17879961
CHEK2
G 0.900 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015
dbSNP: rs587782471
rs587782471
CHEK2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs587780174
rs587780174
CHEK2
T 0.700 CausalMutation CLINVAR

dbSNP: rs864622149
rs864622149
CHEK2
T 0.700 GeneticVariation CLINVAR