|
rs45580035
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.
|
11149425 |
2001 |
|
rs45580035
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
BRCA2 germline mutations in male breast cancer patients in the Polish population.
|
11139248 |
2001 |
|
rs45580035
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.
|
10978364 |
2000 |
|
rs45580035
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germline brca2 sequence variants in patients with ocular melanoma.
|
10399947 |
1999 |
|
rs45580035
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.
|
9971877 |
1999 |
|
rs45580035
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families.
|
9654203 |
1998 |
|
rs45580035
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.
|
9609997 |
1998 |
|
rs45580035
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A low proportion of BRCA2 mutations in Finnish breast cancer families.
|
9150152 |
1997 |
|
rs41293511
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs45580035
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80359014
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80359014
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
|
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 |
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
|
|
|
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
|
|
|
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
|
|
T |
0.740 |
GeneticVariation |
GWASDB |
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
|
23535729 |
2013 |
|
rs80359065
|
|
|
0.730 |
GeneticVariation |
BEFREE |
The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; <i>P</i> = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; <i>P</i> = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; <i>P</i> = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; <i>P</i> = 0.004) were associated with moderate and low risks of breast cancer among Asians.
|
28283652 |
2017 |
|
rs80359065
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We found three missense variants with minor allele frequency (MAF) <0.05: rs80358978 (Gly2508Ser), rs80359065 (Lys2729Asn) and rs11571653 (Met784Val) in the BRCA2 gene, showing statistically significant associations with breast cancer risk, with P-values of 1.2 × 10-4, 1.0 × 10-3 and 5.0 × 10-3, respectively.
|
28419251 |
2017 |
|
rs80359065
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Remarkably, FA-AML1 cells appeared to lack the characteristic cellular FA phenotype, i.e., a hypersensitivity to growth inhibition and chromosomal breakage by the cross-linking agent mitomycin C. Genomic DNA from the patient showed biallelic mutations [8415G>T (K2729N)and 8732C>A (S2835STOP)] in the breast cancer susceptibility gene FANCD1/BRCA2 [N. Howlett et al., Science (Wash. DC), 297: 606-609, 2002].
|
12750298 |
2003 |
|
rs80359065
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs28897743
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We have successfully identified a novel, germline heterozygous, missense mutation of the gene BRCA2: c.7007G>T, p.R2336L, which is likely to be pathogenic in the proband and her elder sister who both had breast cancer.
|
31782247 |
2020 |
|
rs80359182
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we show that BRCA1 and BRCA2 variants are significantly associated with high breast cancer risk (BRCA1 rs80356932; Genotype T/T OR 8.66, 95% CI 3.16-23.71, p < 0.0001; Allele-T, OR 2.48, 95% CI 1.62-3.81, p < 0.0001 and BRCA2 rs80359182; Genotype C/C OR 4.32, 95% CI 1.95-9.53, p = 0.0001; Allele-C, OR 2.19, 95% CI 1.43-3.34, p = 0.0002).
|
30430339 |
2019 |
|
rs80358807
|
|
|
0.710 |
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 |
|
rs80358755
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Nevertheless, comprehensive studies of mutation G1770V in large series of BC patients from Morocco are needed to assess the real prevalence of this mutation and to improve genetic testing and risk assessment in this population.
|
26864382 |
2016 |