|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Patterns and functional implications of rare germline variants across 12 cancer types.
|
26689913 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
|
25186627 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Deleterious BRCA1/2 mutations in an urban population of Black women.
|
26250392 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy).
|
24516540 |
2014 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy).
|
24516540 |
2014 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
|
24516540 |
2014 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.
|
23161852 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
|
22034289 |
2012 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mechanisms of BRCA1 tumor suppression.
|
22843421 |
2012 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.
|
20103620 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair.
|
18066063 |
2008 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
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 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization.
|
16140926 |
2005 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
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 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.
|
12915465 |
2003 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex.
|
12732733 |
2003 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity.
|
11320250 |
2001 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers.
|
11106241 |
2000 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?
|
9042907 |
1997 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.
|
7894491 |
1994 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
|
28364669 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
|
25823446 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Patterns and functional implications of rare germline variants across 12 cancer types.
|
26689913 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypes.
|
26246475 |
2015 |