BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
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, 2
|
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, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
|
29446198 |
2018 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
|
29707112 |
2018 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.
|
28637432 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
BRCA1/2 missense mutations and the value of in-silico analyses.
|
28807866 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
|
28678401 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
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, 2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
|
28339459 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
GeneticVariation
|
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, 2
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.
|
28888541 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
GeneticVariation
|
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, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
|
28339459 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
|
29348823 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
|
28008555 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.
|
28205045 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
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, 2
|
0.700 |
CausalMutation
|
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 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prospective phase II trial of trabectedin in BRCA-mutated and/or BRCAness phenotype recurrent ovarian cancer patients: the MITO 15 trial.
|
26681678 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
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, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins.
|
26635394 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.
|
26659639 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping.
|
26004055 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping.
|
26004055 |
2016 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.
|
26824983 |
2016 |