|
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 |
|
rs531398630
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.
|
24390236 |
2014 |
|
rs531398630
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The p.H371Y mutation was significantly associated with increased breast cancer risk in unselected b</span>reast cancer (odds ratio [OR] 2.43, 95% confidence interval [CI] 1.07-5.52, P = 0.034).
|
21618645 |
2011 |
|
rs531398630
|
|
|
0.040 |
GeneticVariation |
BEFREE |
However, there may be an association between genetic susceptibility to breast cancer in China and the variant 1111C>T.
|
18484200 |
2008 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs200928781
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In patients without family history, Y390C carriers tend to develop breast cancer early, before 35 years of age.
|
25619829 |
2015 |
|
rs200050883
|
|
|
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 |
|
rs587780170
|
|
|
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 |
|
rs587782527
|
|
|
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 |
|
rs200649225
|
|
|
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 |
|
rs17883862
|
|
|
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 |
|
rs28909982
|
|
|
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 |