|
rs45580035
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The emerging landscape of breast cancer susceptibility.
|
18163131 |
2008 |
|
rs45580035
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
|
12938098 |
2003 |
|
rs45580035
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.
|
24366376 |
2014 |
|
rs45580035
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
|
17508274 |
2007 |
|
rs45580035
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
UNIPROT |
High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.
|
9609997 |
1998 |
|
rs45580035
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
UNIPROT |
BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.
|
10978364 |
2000 |
|
rs41293511
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
|
17508274 |
2007 |
|
rs41293511
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.
|
24366376 |
2014 |
|
rs41293511
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The emerging landscape of breast cancer susceptibility.
|
18163131 |
2008 |
|
rs41293511
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.
|
24366402 |
2014 |
|
rs41293511
|
|
Malignant neoplasm of breast
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs41293511
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
rs11571833
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
T |
0.740 |
GeneticVariation
|
GWASDB |
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
|
23535729 |
2013 |
|
rs11571833
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs80359065
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
0.730 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs80359065
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs80359198
|
|
Malignant neoplasm of breast
|
|
0.710 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs80359198
|
|
Malignant neoplasm of breast
|
|
0.710 |
GeneticVariation
|
BEFREE |
One alteration found in the breast cancers was a 2-basepair (bp) deletion (4710delAG) which was subsequently shown to be a germline mutation, the other was a somatic missense mutation (Asp3095Glu) of unknown significance.
|
8640235 |
1996 |
|
rs80359182
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs80359182
|
|
Malignant neoplasm of breast
|
|
0.710 |
GeneticVariation
|
UNIPROT |
|
|
|