|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
|
25085752 |
2014 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening.
|
23397983 |
2014 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer.
|
23192404 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
|
22034289 |
2012 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
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 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
|
21702907 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection.
|
19949876 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg).
|
19287957 |
2009 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
|
18489799 |
2008 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
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 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Classification of Missense Mutations of Disease Genes.
|
18418466 |
2005 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
MYC is amplified in BRCA1-associated breast cancers.
|
14760071 |
2004 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect.
|
15131401 |
2004 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex.
|
12732733 |
2003 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions.
|
11526114 |
2001 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity.
|
11320250 |
2001 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Low frequency of microsatellite instability in BRCA1 mutated breast tumours.
|
11015464 |
2000 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a RING protein that can interact in vivo with the BRCA1 gene product.
|
8944023 |
1996 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.
|
7894491 |
1994 |