|
rs80359078
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Molecular characterization, homology modeling and docking studies of the R2787H missense variation in BRCA2 gene: Association with breast cancer.
|
27211102 |
2016 |
|
rs28897759
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed a missense VUS located in BRCA2 (p.Asn3124Ile; HGVS: BRCA2 c.9371A > T) present in seven independent high-risk breast cancer families that were counseled and genetically tested in South-West Germany.
|
24728577 |
2014 |
|
rs765436962
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genetic variant c.1312G>T (p.D438Y) identified in a patient with a family history of breast cancer.
|
24390236 |
2014 |
|
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 |
|
rs80358621
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.Ala126Thr and p.Val169Ala variants have been reported to have no association with risk of breast cancer in a case-control study.
|
22476429 |
2012 |
|
rs80359152
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The absence of BRCA2 c.9004G>A carriers in the breast cancer cases not selected for family history contrasts with familial cases, supporting a pathogenic status for this variant and addition to the existing common BRCA1 and BRCA2 mutation-screening panel for French Canadian breast and/or ovarian cancer families.
|
21947752 |
2012 |
|
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 |
|
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 |
|
rs1799955
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, both SNPs, BRCA2 Ser2414Ser (7242A > G) and Ser455Ser (1365A > G), showed no association with breast cancer risk.
|
19229607 |
2009 |
|
rs1801439
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, both SNPs, BRCA2 Ser2414Ser (7242A > G) and Ser455Ser (1365A > G), showed no association with breast cancer risk.
|
19229607 |
2009 |
|
rs80358462
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two variants (Thr598Ile and Ile692Thr) were not detected in any of the 659 sporadic breast cancer cases and controls and were assessed for segregation with breast cancer in the families of the probands.
|
17972171 |
2008 |
|
rs397507293
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found no effect of the putatively functional BRIP1 variants -64G>A and Pro919Ser on the risk of familial BC.
|
17504528 |
2007 |
|
rs80358702
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When stratified by menopausal status, COMT Val158Met L/L (OR: 11.94; 95% CI: 1.48-96.03, P=0.02) and ERalpha PvuII P/p genotypes (OR: 2.67; 95% CI: 1.01-7.05, P=0.048) were associated with a significantly elevated risk of breast cancer in premenopausal women, and there was a association between ERalpha XbaI x/x genotype and the nonsignificantly increased risk of breast cancer in premenopausal women (OR: 6.88; 95% CI: 0.80-59.15, P=0.079).
|
17562079 |
2007 |
|
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 |
|
rs41293475
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the unclassified variant S384F in three of the four breast cancer patients (the three were diagnosed at 41, 43 and 57 years of age).
|
16168123 |
2005 |
|
rs206340
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results could be explained on the basis of a single marker in intron 24 (SNP 42: rs206340) that was correlated with these haplotypes and the homozygous state was associated with a significantly increased risk of breast cancer (AA versus GG genotypes: OR=1.59, 95% CI, 1.18-2.16; nominal P=0.005).
|
15317758 |
2004 |
|
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 |
|
rs786201704
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, one missense variant, L1420F, was observed in 13 HBOC families (4.8%) but was not observed in any of the 122 healthy volunteers with no history of breast cancer.
|
12810666 |
2003 |
|
rs80359130
|
|
|
0.010 |
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 |
|
rs878853582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, one missense variant, L1420F, was observed in 13 HBOC families (4.8%) but was not observed in any of the 122 healthy volunteers with no history of breast cancer.
|
12810666 |
2003 |
|
rs80358547
|
|
|
0.010 |
GeneticVariation |
BEFREE |
RNA analysis from a breast cancer patient with BRCA2 IVS7 + 2T --> G showed that the productive message was produced from only one chromosome.
|
11185744 |
2000 |