|
rs531398630
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We screened a cohort of 2334 Chinese women with operable primary breast cancer who received a neoadjuvant chemotherapy regimen for CHEK2 H371Y germline mutations.
|
25884806 |
2015 |
|
rs17879961
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis.
|
26991782 |
2016 |
|
rs536907995
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan.
|
27039729 |
2016 |
|
rs536907995
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan.
|
27510020 |
2016 |
|
rs201206424
|
|
|
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 |
|
rs587780192
|
|
|
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 |
|
rs730881701
|
|
|
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 |
|
rs77130927
|
|
|
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 |
|
rs17879961
|
|
|
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 |
|
rs9620817
|
|
|
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 |
|
rs137853010
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TP53 p.R181C predisposed specifically to breast cancer with incomplete penetrance, and not to other Li-Fraumeni cancers.
|
28486781 |
2017 |
|
rs1175088679
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also identified a likely damaging germline rs35352891 in the MUTYH gene (c.1118C>T, p.Ala373Val) in one Buryat Mongol BC patient.
|
31273614 |
2019 |
|
rs766794072
|
|
|
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 |