×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
31131967 2019
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
30962250 2019
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
30257991 2019
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
30765603 2019
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
Biomarker
GENOMICS_ENGLAND
Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.
29661970 2018
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
28490613 2018
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
28528518 2018
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).
30105462 2018
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.
28176296 2017
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
27616075 2017
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.
28024868 2017
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Two Cases of Carcinosarcomas of the Ovary Involved in Hereditary Cancer Syndromes.
27167672 2017
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.
28680148 2017
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.
28294317 2017
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
GeneticVariation
CLINVAR
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.
28111427 2017
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
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
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas.
25920394 2016
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.
26014432 2016
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
27272900 2016
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
GeneticVariation
CLINVAR
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
26913838 2016
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.
26187060 2016
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.
26843898 2016
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312 2016
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
CausalMutation
CLINVAR
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.
26848529 2016
×
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700
GeneticVariation
CLINVAR
Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.
27741520 2016