Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11571833
rs11571833
T 0.740 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017

dbSNP: rs11571833
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

dbSNP: rs11571833
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

dbSNP: rs11571833
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

dbSNP: rs11571833
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

dbSNP: rs11571833
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

dbSNP: rs11571833
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

dbSNP: rs11571833
rs11571833
T 0.740 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013

dbSNP: rs11571818
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

dbSNP: rs1555283031
rs1555283031
A 0.700 CausalMutation CLINVAR

dbSNP: rs397507990
rs397507990
GA 0.700 GeneticVariation CLINVAR

dbSNP: rs41293497
rs41293497
G 0.700 CausalMutation CLINVAR

dbSNP: rs80359011
rs80359011
C 0.700 GeneticVariation CLINVAR

dbSNP: rs80359306
rs80359306
GA 0.700 GeneticVariation CLINVAR

dbSNP: rs80359598
rs80359598
G 0.700 CausalMutation CLINVAR

dbSNP: rs80359770
rs80359770
CA 0.700 CausalMutation CLINVAR

dbSNP: rs144848
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

dbSNP: rs144848
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

dbSNP: rs144848
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

dbSNP: rs144848
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

dbSNP: rs144848
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

dbSNP: rs144848
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

dbSNP: rs144848
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

dbSNP: rs144848
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

dbSNP: rs144848
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