|
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
This population is highly admixed with a different spectrum of genetic susceptibility, with the Galician founder mutation BRCA1 p.R71G accounting for 50% of all identified mutations in high-risk HBOC patients.
|
27081505 |
2014 |
|
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.
|
23161852 |
2013 |
|
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).
|
23683081 |
2013 |
|
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Functional differences among BRCA1 missense mutations in the control of centrosome duplication.
|
21725363 |
2012 |
|
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 |
|
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 |
|
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 |
|
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups.
|
18159056 |
2007 |
|
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.
|
16403807 |
2006 |
|
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 |
|
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity.
|
11320250 |
2001 |
|
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.
|
11385711 |
2001 |
|
rs80357382
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families.
|
10508480 |
1999 |