|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
BRCA1 and BRCA2 (BRCA1/2) testing is standard for individuals with personal and/or family history suggestive of hereditary breast and ovarian cancer syndrome.
|
31729099 |
2020 |
|
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 |
CLINVAR |
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
|
30765603 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells.
|
30736279 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
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 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.
|
31341520 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe two novel BRCA1 large deletions detected in Italian patients affected by hereditary breast and ovarian cancer syndrome (HBOC).
|
30506513 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have screened <i>BRCA1/2</i> deep intronic regions to identify potential spliceogenic variants that could explain part of the missing HBOC susceptibility.
|
30472649 |
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 |
GeneticVariation
|
disease |
BEFREE |
Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations.
|
30414230 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.
|
31347298 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The 9-12 del BRCA1 was detected in 5% of patients with suspected HBOC (30/637).
|
31545835 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
LGR variants in BRCA1 gene play a significant role in Chinese HBOC patients.
|
31174498 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition to national similarities in the HBOC-BRCA1/2 associated mutational spectrum, we identified a recurrent BRCA2 pathogenic variant (c.6024dupG), highly associated to OC in Navarra.
|
31771539 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
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 |
CausalMutation
|
disease |
CLINVAR |
Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
|
30257991 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
For the first time, in a retrospective non-cancer related cohort from a single Swiss genetic centre, we systematically assessed the prevalence of secondary findings in 19 genes (BRCA1/2 plus 17 non-BRCA genes) previously designated by the US National Comprehensive Cancer Network (NCCN) for hereditary breast and ovarian cancer (HBOC) germline testing.
|
31422574 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Breast cancer gene 1 (BRCA1) is a tumor suppressor that is associated with hereditary breast and ovarian cancer.
|
30617304 |
2019 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We aimed to determine the prevalence of pathogenic germline <i>BRCA1/2</i> variants in women diagnosed with epithelial ovarian cancer, categorised according to the established risk factors for hereditary breast and ovarian cancer syndrome and the Manchester BRCA Score, to inform risk stratification.
|
30683677 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.
|
30480775 |
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 |
In this study, we aimed to investigate the mutation spectrum of BRCA1 and BRCA2 genes in hereditary breast/ovarian cancer (HBOC) families from the Aures region (eastern Algeria).
|
30715675 |
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 |
A total of 54 (23.3%) ovarian cancer patients were found to harbor BRCA1/2 deleterious mutations, and BRCA1/2 mutations were significantly associated with Hereditary Breast and Ovarian Cancer-related tumors and family history of cancer.
|
30972954 |
2019 |