rs200928781
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs200928781
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.
|
12094328 |
2002 |
rs28897696
|
|
Malignant neoplasm of breast
|
|
0.810 |
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 |
rs28897696
|
|
Malignant neoplasm of breast
|
|
0.810 |
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 |
rs28897696
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The emerging landscape of breast cancer susceptibility.
|
18163131 |
2008 |
rs28897696
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
|
17508274 |
2007 |
rs28897696
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs28897696
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
BEFREE |
Two mutated forms of BRCA1, a missense (A1708E) and a nonsense (Y1853X) that have been identified in familial breast cancers, associated with Nmi and c-Myc but failed to suppress c-Myc-induced hTERT promoter activity.
|
11916966 |
2002 |
rs28897696
|
|
Malignant neoplasm of breast
|
T |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs28897759
|
|
Malignant neoplasm of breast
|
|
0.810 |
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 |
rs28897759
|
|
Malignant neoplasm of breast
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
|
|
|
rs28897759
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
|
|
|
rs55770810
|
|
Malignant neoplasm of breast
|
|
0.810 |
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 |
rs55770810
|
|
Malignant neoplasm of breast
|
|
0.810 |
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 |
rs55770810
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
BEFREE |
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X).
|
22889855 |
2012 |
rs55770810
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The emerging landscape of breast cancer susceptibility.
|
18163131 |
2008 |
rs55770810
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
|
17508274 |
2007 |
rs55770810
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs55770810
|
|
Malignant neoplasm of breast
|
A |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs10941679
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
Functional assays demonstrated that SNP rs10941679 maps to an enhancer element that physically interacts with the FGF10 and MRPS30 promoter regions in breast cancer cell lines.
|
27640304 |
2016 |
rs10941679
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
In this study using a Han Chinese population, rs10941679 was the only SNP associated with breast cancer risk, indicating a difference between European and Chinese populations in susceptibility loci.
|
24528085 |
2014 |
rs10941679
|
|
Malignant neoplasm of breast
|
G |
0.800 |
GeneticVariation
|
GWASDB |
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
|
23535729 |
2013 |
rs10941679
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
Overall, significantly elevated BC risk was associated with rs10941679, rs4415084, and rs981782 risk allele when all studies were pooled into the meta-analysis.
|
23977236 |
2013 |
rs10941679
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer.
|
23893088 |
2013 |
rs10941679
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
The mitochondrial ribosomal protein S30 gene (MRPS30) rs10941679 was associated with breast cancer risk only among women with more than 30 years of menstruation (odds ratio = 1.15, 95% confidence interval: 1.05, 1.26).
|
23221726 |
2013 |