rs11571833
|
|
T |
0.740 |
GeneticVariation |
GWASCAT |
Association analysis identifies 65 new breast cancer risk loci.
|
29059683 |
2017 |
rs11571833
|
|
|
0.740 |
GeneticVariation |
BEFREE |
For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer.
|
26586665 |
2016 |
rs11571833
|
|
T |
0.740 |
GeneticVariation |
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
rs11571833
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Despite classification of the BRCA2c.9976A>T, p.(Lys3326Ter) variant as a polymorphism, it has been associated with increased risks of pancreatic, lung, oesophageal and breast cancer.
|
26041759 |
2015 |
rs11571833
|
|
|
0.740 |
GeneticVariation |
BEFREE |
This data is consistent with recent iCOGs data suggesting that this variant is not neutral with respect to breast cancer risk. rs11571833 may need to be included in SNP panels for evaluating breast cancer risk.
|
26455428 |
2015 |
rs11571833
|
|
T |
0.740 |
GeneticVariation |
GWASCAT |
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
|
25751625 |
2015 |
rs11571833
|
|
|
0.740 |
GeneticVariation |
BEFREE |
A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a 2.5-fold risk of lung squamous cell carcinoma but only a modest 26% increase in breast cancer risk.
|
25838448 |
2015 |
rs11571833
|
|
T |
0.740 |
GeneticVariation |
GWASCAT |
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
|
23535729 |
2013 |
rs11571818
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
rs1555283031
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397507990
|
|
GA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs41293497
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs80359011
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs80359306
|
|
GA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs80359598
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs80359770
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Modulation of HAT activity by BRCA2 N372H variation is a new mechanism of paclitaxel resistance in breast cancer.
|
28431939 |
2017 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequency ranging from 42 to 100%, with similar rate for each SNP in mutated and nonmutated families with the only exception of BRCA1 K1183R significantly more frequent in mutated families (P = 0.004); conversely, this SNP and BRCA2 N372H, were more frequently present in breast cancer relatives belonging to families in which pathological BRCA mutations were not present.
|
20352487 |
2011 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Overall, no significant associations were found between BRCA2 N372H polymorphism and breast cancer risk when all studies pooled into the meta-analysis (NH versus NN: OR = 1.01, 95% CI = 0.97-1.05; HH versus NN: OR = 1.05, 95% CI = 0.97-1.13; dominant model: OR = 1.01, 95% CI = 0.98-1.05; and recessive model: OR = 1.05, 95% CI = 0.98-1.13).
|
20135345 |
2010 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Considering the relevant role of BRCA2 in MBC, we investigated whether the BRCA2 N372H variant, representing the only common non-synonymous polymorphism in BRCA2, might modulate the risk of BC in male populations.
|
17767707 |
2007 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To explore the possible association between the common single nucleotide polymorphism N372H in human breast cancer susceptibility gene 2 (BRCA2) and the idiopathic male infertility with azoospermia or severe oligozoospermia.
|
16257105 |
2006 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P.
|
16485136 |
2006 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The BRCA2 homozygous variation p.N372H, previously associated with an increased risk for developing breast cancer, was not identified in this study.
|
15918047 |
2005 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks.
|
15113441 |
2004 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results suggest that the M/V784 polymorphism, but not the N/H372 polymorphism, would be useful in the selection of women at high risk for developing breast cancer and would also serve as a clinically useful prognostic factor in breast cancer patients.
|
12684407 |
2003 |