|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Approximately 5-10% of breast carcinomas have been related to hereditary conditions and are attributable to pathogenic variants in the BRCA1 and BRCA2 genes, which is referred to as hereditary breast and ovarian cancer (HBOC) syndrome.
|
31786208 |
2020 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a rapid, multiplex and comprehensive approach for the detection of pathogenic variants in BRCA1 and BRCA2 genes which most frequently occur in Slovak HBOC population.
|
29534594 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The functional impact of variants of uncertain significance in BRCA2.
|
29988080 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
BRCA Reversion Mutations in Circulating Tumor DNA Predict Primary and Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma.
|
30425037 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
To study the role of BRCA2 mis-splicing in hereditary breast/ovarian cancer (HBOC), we performed a comprehensive analysis of variants from BRCA2 exons 2-9, as well as the initial characterization of the regulatory mechanisms of such exons.
|
30883759 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Correction to: BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
|
30834494 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recurrent mutations on BRCA1 and BRCA2 previously found in Algerian patients were screened using PCR-direct sequencing in 113 HBOC families.
|
30715675 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Following the identification in a proband of a germline BRCA1/BRCA2 mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will be asked to inform at-risk family members about the option for presymptomatic DNA testing.
|
29846880 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
|
30883759 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines.
|
30725392 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
|
30630528 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in BRCA1 and BRCA2 only explain the underlying genetic cause of about 10% of hereditary breast and ovarian cancer families.
|
30303537 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer (HBOC).
|
31395037 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
|
29750819 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.
|
30103829 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.
|
29368341 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
|
29969168 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.
|
28993434 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
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 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
|
29707112 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.
|
29785135 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
|
29394989 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
|
28726806 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Ipilimumab plus nivolumab and DNA-repair defects in AR-V7-expressing metastatic prostate cancer.
|
29983880 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Germline promoter hypermethylation of BRCA1 and BRCA2 genes is an alternative event of gene silencing that has not been widely investigated in hereditary breast and ovarian cancer (HBOC) syndrome.
|
29404838 |
2018 |