rs28897696
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
|
21990134 |
2012 |
rs28897696
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Two BRCA1/2 founder mutations in Jews of Sephardic origin.
|
21063910 |
2011 |
rs28897696
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding.
|
19404736 |
2010 |
rs28897696
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
|
20516115 |
2010 |
rs28897696
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
|
17924331 |
2007 |
rs28897696
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia.
|
17080309 |
2007 |
rs28897696
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.
|
15923272 |
2006 |
rs28897696
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.
|
15340362 |
2004 |
rs28897696
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
|
12955716 |
2003 |