rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
|
22505045 |
2012 |
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
|
21735045 |
2012 |
rs80357064
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.
|
20103620 |
2010 |
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
|
20104584 |
2010 |
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.
|
20103620 |
2010 |
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
|
20215541 |
2010 |
rs80356923
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.
|
19370767 |
2009 |
rs80357382
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We demonstrate that disruption of alternative transcript ratios is the mechanism causing hereditary breast/ovarian cancer associated with the BRCA1 R71G mutation.
|
19123044 |
2009 |
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin.
|
19123044 |
2009 |
rs80356923
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified.
|
17851763 |
2008 |
rs80357064
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair.
|
18066063 |
2008 |
rs80357064
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
|
18489799 |
2008 |
rs80357086
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer.
|
19016756 |
2008 |
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups.
|
18159056 |
2007 |
rs80356923
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
|
16683254 |
2006 |
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.
|
16403807 |
2006 |
rs80356923
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
|
16267036 |
2005 |
rs80357064
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization.
|
16140926 |
2005 |
rs80357064
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
|
16267036 |
2005 |
rs80357086
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families.
|
15168169 |
2004 |
rs80357064
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.
|
12915465 |
2003 |
rs80357064
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex.
|
12732733 |
2003 |
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula.
|
12014998 |
2002 |
rs80356923
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.
|
11149425 |
2001 |
rs80356923
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features.
|
11506493 |
2001 |