Frontiers | Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays
How to read variant information in the rare diseases test reports…
My Mutation
Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers | PLOS ONE
Reported prevalence of BRCA1 founder mutations in the Polish population. | Download Scientific Diagram
Figures and data in Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance | eLife
Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
Frameshift mutations detected in BRCA genes | Download Table
Table 2 from Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea. | Semantic Scholar
Germ line BRCA2 pathogenic mutations in breast and ovarian cancer... | Download Table
Genes | Free Full-Text | BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome
Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10) | ACS Omega
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients - Gao - 2020 - Human Mutation - Wiley Online Library
Cureus | Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia | Article
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilate
Frontiers | Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15
Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project - Genetics in Medicine
Common mutation types of BRCA1 or BRCA2 genes in the BIC database. | Download Scientific Diagram
Genes | Free Full-Text | Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location
NGS bioinformatics pipeline—worries and wish lists: A look at the preanalytic, analytic, and postanalytic phases - CAP TODAY
![PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/bf87f5f3d03688219adbdb700c61ca774b46789f/2-Table1-1.png "PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar")
PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar
P/LP variants. cDNA and Protein changes are named according to HGVS... | Download Table
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science
Cancers | Free Full-Text | 5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays | npj Genomic Medicine
The Breast Cancer Information Core: Database design, structure, and scope - Szabo - 2000 - Human Mutation - Wiley Online Library
