|
rs144848
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The meta-analysis suggests that the BRCA2 rs144848 polymorphism may play a role in cancer</span> risk.
|
28418854 |
2017 |
|
rs144848
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The subgroup analysis for serous cancer subgroup showed that the significant association could be detected under recessive model (OR = 1.38, 95% CI, 1.01-1.89, P = 0.04) and under homozygote comparison (OR = 1.46, 95% CI, 1.06-2.01, P = 0.022).Our meta-analysis suggests that the N372H polymorphism is associated with susceptibility of ovarian cancer.
|
26496279 |
2015 |
|
rs144848
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The results indicated that the BRCA2 N372H variant was significantly associated with an increased risk of overall cancer</span> (dominant model: OR = 1.07, 95% CI = 1.01-1.13; recessive model: OR = 1.12, 95% CI = 1.02-1.23).
|
25348552 |
2014 |
|
rs144848
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We genotyped 630 unselected MM patients and over 3700 controls (newborns, age- and sex-matched healthy adults with negative cancer family histories, and the adults selected at random by family doctors) for the prevalence of three common variants of the BRCA2 (T1915M, N991D and N372H) and four common variants of the CHEK2 (1100delC, VS2+1G --> A, I157T and del5395).
|
18024013 |
2008 |
|
rs144848
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We conclude that if these single-nucleotide polymorphisms do modify the risk of cancer in BRCA1 mutation carriers, their effects are not significantly larger than that of N372H previously observed in the general population.
|
15668505 |
2005 |
|
rs144848
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer.
|
12496039 |
2002 |
|
rs11571833
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The cancer risks associated with K3326* are fundamentally different from those associated with 999del5.
|
29767749 |
2018 |
|
rs11571833
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant.
|
26586665 |
2016 |
|
rs11571833
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We also found a rare nonsense variant in the BRCA2 gene (rs11571833), previously associated with cancer susceptibility but not with melanoma, which showed weak association with melanoma susceptibility in the Swedish population.
|
27074266 |
2016 |
|
rs11571833
|
|
|
0.050 |
GeneticVariation |
BEFREE |
It is likely that the previous associations of increased cancer risks due to BRCA2c.9976A>T represent reporting bias and are contributed to because the variant is in LD with BRCA2c.6275_6276delTT.
|
26041759 |
2015 |
|
rs11571833
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We analyzed the association between BRCA2 SNP rs11571833 and upper aerodigestive tract (UADT) cancer risk with multivariable unconditional logistic regression adjusted by sex and combinations of study and country for 5942 UADT squamous cell carcinoma case patients and 8086 control patients from nine different studies.All statistical tests were two-sided. rs11571833 was associated with UADT cancers (odds ratio = 2.53, 95% confidence interval = 1.89 to 3.38, P = 3x10(-10)) and was present in European, Latin American, and Indian populations but extremely rare in Japanese populations.
|
25838448 |
2015 |
|
rs1799944
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Unconditional logistic regression showed no association between rs1799943 or rs1799944 and cancer risk.
|
26979245 |
2016 |
|
rs1799944
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We genotyped 630 unselected MM patients and over 3700 controls (newborns, age- and sex-matched healthy adults with negative cancer family histories, and the adults selected at random by family doctors) for the prevalence of three common variants of the BRCA2 (T1915M, N991D and N372H) and four common variants of the CHEK2 (1100delC, VS2+1G --> A, I157T and del5395).
|
18024013 |
2008 |
|
rs1799943
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Unconditional logistic regression showed no association between rs1799943 or rs1799944 and cancer risk.
|
26979245 |
2016 |
|
rs28897743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three patients presented with early onset of cancer, two had BRCA2 mutation c.7007G > A (p.Arg2336His) and one had a novel c.3425del (p.Leu1142Tyrfs*21) PALB2 mutation.
|
26968956 |
2016 |
|
rs863224464
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two cancer syndrome gene variants likely to affect native translation initiation were identified by clinical genetic testing: MLH1:c.1A>G p.(Met1?) and BRCA2:c.67+3A>G.
|
24302565 |
2015 |
|
rs1060502495
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On the basis of its exclusive occurrence in familial cancers, disease cosegregation, evolutionary conservation, and disruption of critical BRCA1 functions, the recurrent Abraxas c.1082G>A mutation connects to cancer predisposition.
|
22357538 |
2012 |
|
rs80358732
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We previously showed that variant BRCA1 c.5096G>A p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays, and proposed that this variant may confer low to moderate risk of cancer.
|
22889855 |
2012 |
|
rs80359071
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HR-positive variants, D191V, N1878K, S2006R, R2108C, G2353R, and V3091I, which increased HR as much as the cancer-associated variant G2748D, could probably be classified as pathogenic.
|
21671020 |
2011 |
|
rs80359194
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HR-positive variants, D191V, N1878K, S2006R, R2108C, G2353R, and V3091I, which increased HR as much as the cancer-associated variant G2748D, could probably be classified as pathogenic.
|
21671020 |
2011 |
|
rs11571707
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history.The tumor was not available for study.
|
19851859 |
2010 |
|
rs4987117
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 630 unselected MM patients and over 3700 controls (newborns, age- and sex-matched healthy adults with negative cancer family histories, and the adults selected at random by family doctors) for the prevalence of three common variants of the BRCA2 (T1915M, N991D and N372H) and four common variants of the CHEK2 (1100delC, VS2+1G --> A, I157T and del5395).
|
18024013 |
2008 |
|
rs886040456
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 630 unselected MM patients and over 3700 controls (newborns, age- and sex-matched healthy adults with negative cancer family histories, and the adults selected at random by family doctors) for the prevalence of three common variants of the BRCA2 (T1915M, N991D and N372H) and four common variants of the CHEK2 (1100delC, VS2+1G --> A, I157T and del5395).
|
18024013 |
2008 |
|
rs4987046
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Since the cancer-predisposing mutation Y42C in BRCA2 significantly compromised the interaction between RPA and BRCA2, this interaction may be biologically important.
|
12527904 |
2003 |
|
rs1057520247
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Some examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val) [DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C-->T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase (quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G) mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to favism and hemolytic anemia), and the Glu487-->Lys mutation (present in one-half of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to alcohol intolerance, Alzheimer disease, and cancer).
|
11916749 |
2002 |