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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?
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?

Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers | PLOS ONE
Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers | PLOS ONE

My Mutation
My Mutation

Genes | Free Full-Text | Differences in Ovarian and Other Cancers Risks by  Population and BRCA Mutation Location
Genes | Free Full-Text | Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions  of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations  | PLOS ONE
Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations | PLOS ONE

dbBRCA-Asian
dbBRCA-Asian

P/LP variants. cDNA and Protein changes are named according to HGVS... |  Download Table
P/LP variants. cDNA and Protein changes are named according to HGVS... | Download Table

A computational model for classification of BRCA2 variants using mouse  embryonic stem cell-based functional assays | npj Genomic Medicine
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays | npj Genomic Medicine

Prevalence and spectrum of BRCA germline variants in mainland Chinese  familial breast and ovarian cancer patients | Oncotarget
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients | Oncotarget

How to read variant information in the rare diseases test reports…
How to read variant information in the rare diseases test reports…

NGS bioinformatics pipeline—worries and wish lists: A look at the  preanalytic, analytic, and postanalytic phases - CAP TODAY
NGS bioinformatics pipeline—worries and wish lists: A look at the preanalytic, analytic, and postanalytic phases - CAP TODAY

How to read variant information in the rare diseases test reports…
How to read variant information in the rare diseases test reports…

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
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

Capturing all disease-causing mutations for clinical and research use:  Toward an effortless system for the Human Variome Project - Genetics in  Medicine
Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project - Genetics in Medicine

Cureus | Sociodemographic, Clinical, and Variation Outcomes for Breast  Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva,  Huila, Colombia | Article
Cureus | Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia | Article

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
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

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

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
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

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
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

Functional assays provide a robust tool for the clinical annotation of  genetic variants of uncertain significance | npj Genomic Medicine
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance | npj Genomic Medicine

Frontiers | Identification of Eight Spliceogenic Variants in BRCA2 Exon 16  by Minigene Assays
Frontiers | Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays

Figures and data in Functional and mutational landscapes of BRCA1 for  homology-directed repair and therapy resistance | eLife
Figures and data in Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance | eLife