rs80358061
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
|
23451180 |
2013 |
rs80358061
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
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 |
rs80358061
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.
|
19241424 |
2009 |
rs80358061
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
|
18424508 |
2008 |
rs80358061
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.
|
18284688 |
2008 |
rs80358061
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups.
|
18159056 |
2007 |
rs80358061
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
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 |
rs80358061
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.
|
7894493 |
1994 |