BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
|
31131967 |
2019 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
|
30962250 |
2019 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
|
30257991 |
2019 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
|
30765603 |
2019 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
Biomarker
|
disease |
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 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
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 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
|
28528518 |
2018 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).
|
30105462 |
2018 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
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 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
|
27616075 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.
|
28024868 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Two Cases of Carcinosarcomas of the Ovary Involved in Hereditary Cancer Syndromes.
|
27167672 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.
|
28680148 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
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 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
GeneticVariation
|
disease |
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 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
GeneticVariation
|
disease |
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 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas.
|
25920394 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.
|
26014432 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
|
27272900 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
|
26913838 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.
|
26187060 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.
|
26843898 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.
|
26848529 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
0.700 |
GeneticVariation
|
disease |
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 |