|
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 |
|
|
|
|
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 |
|
rs80358829
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A common variant allele (C5972T) observed in the BRCA2 gene in the Polish population is associated with an increased risk of breast cancer.
|
25533971 |
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 |
Association analysis identifies 65 new breast cancer risk loci.
|
29059683 |
2017 |
|
rs876659602
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Available data suggests that PALB2 c.3113G>A is a rare mutation with estimated breast cancer risks similar in magnitude to that associated with BRCA2 mutations.
|
23471749 |
2013 |
|
rs397507758
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on the genotyping of 2 loss-of-function (LoF) variants c.5101C>T (p.GIn1701Ter [rs147021911]) and c.5791C>T (p.Arg1931Ter [rs144567652]), the FANCM gene has been suggested as a novel BC predisposition gene, while the analysis of the entire coding region of the FANCM gene in familial index cases and geographically matched controls is pending.
|
28033443 |
2017 |
|
rs80358807
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on the genotyping of 2 loss-of-function (LoF) variants c.5101C>T (p.GIn1701Ter [rs147021911]) and c.5791C>T (p.Arg1931Ter [rs144567652]), the FANCM gene has been suggested as a novel BC predisposition gene, while the analysis of the entire coding region of the FANCM gene in familial index cases and geographically matched controls is pending.
|
28033443 |
2017 |
|
rs1799944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Carriers of the BRCA2 rs1799944 variant (991 Asp) were found to have an increased risk of breast cancer (OR = 1.41, 95% CI 1.08-1.83, P = 0.01) with P (trend) = 0.0076.
|
18553220 |
2009 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs80358561
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DNA sequencing from III: 22 (diagnosed with lobular BC) identified a BRCA2 exon 3 542G>T (L105X) mutation.
|
14735197 |
2004 |
|
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 |
|
rs876659602
|
|
|
0.020 |
GeneticVariation |
BEFREE |
For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10<sup>-5</sup>), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10<sup>-8</sup>) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012).
|
27595995 |
2016 |
|
rs80358527
|
|
|
0.020 |
GeneticVariation |
BEFREE |
For five SNPs--CASP8 D302H, IGFBP3 -202 c>a, PGR V660L, SOD2 V16A, and TGFB1 L10P--the associations with breast cancer were of borderline statistical significance (P = .016, .060, .047, .056, and .0088 respectively).
|
17018785 |
2006 |
|
rs1057520611
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four previously reported polymorphisms (K1183R, S1613G, and M1652I in BRCA1, and 7470A>G in BRCA2) were detected in both controls and breast cancer patients.
|
17018160 |
2006 |
|
rs4942440
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, there was suggestive evidence that the minor allele of SNP rs4942440, which is associated with higher BRCA2 expression, is also associated with a reduced risk of breast cancer (per-allele hazard ratio (HR) = 0.85, 95% confidence interval (CI) = 0.72 to 1.00, P-trend = 0.048).
|
22513257 |
2012 |