|
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 |
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
|
|
|
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
|
|
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
|
|
T |
0.740 |
GeneticVariation |
GWASCAT |
Association analysis identifies 65 new breast cancer risk loci.
|
29059683 |
2017 |
|
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 |
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 |
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 |
|
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The BRCA2 372 HH genotype defined by the BRCA2 N372H nonconservative amino acid substitution polymorphism was recently reported to be associated with a small increased risk of breast cancer.
|
12471628 |
2003 |
|
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The BRCA2 N372H polymorphism appears to be associated with a modest recessively inherited risk of breast cancer in Australian women.
|
11927503 |
2002 |
|
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 |
Here we show that a common human polymorphism (N372H) in exon 10 of BRCA2 confers an increased risk of breast cancer: the HH homozygotes have a 1.31-fold (95% CI, 1.07-1.61) greater risk than the NN group.
|
11062481 |
2000 |
|
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 |