Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
Explore this paper's citation graph
Summary
The BRCA1 c.4096+3A>G variant was identified in a consanguineous Danish family with several cases of breast/ovarian cancer and is classified as likely benign.
- Type
- article
- Published
- 2017-04-22
- Cited by
- 12
- References
- 21
- OpenAlex
- https://openalex.org/W28588830
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:10353504
Keywords
Philosophy, Humanities
References
- Single base‐pair substitutions in exon–intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
- Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes
- Breast Cancer Risks and Risk Prediction Models
- Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction
- Cancer Incidence in BRCA1 mutation carriers.
- Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations
- Functional characterization of BRCA1 gene variants by mini-gene splicing assay
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
- A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
- Evaluation of a 5‐Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter‐Reviewer Variability and Promotion of Minimum Reporting Guidelines
- Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study
- Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
- Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
- Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer
- A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients
- Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
- Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group
- Hereditary breast and ovarian cancer: new genes in confined pathways
- About the authors
Cited by
- Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.
- The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability
- Towards population-based genetic screenings for breast and ovarian cancer: A comprehensive review from economic evaluations to patient perspectives
- BRCA1/2 variants of unknown significance in hereditary breast and ovarian cancer (HBOC) syndrome: looking for the hidden meaning.
- BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance
- The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations
- Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
- Functional Characterization of the Human BRCA1 ∆11 Splicing Isoforms in Yeast
- BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance
- Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve
- BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
- Functional evidence (I) transcripts and RNA-splicing outline
Related papers
No related papers recorded.