Associated Papers
Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance.
So MK et al.
Diagnostics (basel, Switzerland), 2024
39767183 (PubMed )
Supplement: diagnostics-14-02821-s001.zip › diagnostics-3307629-supplementary_Table.xlsx › Supplementary_Table_S1
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T3
Correction to: In-Silico analyses of Nonsynonymous Variants in the BRCA1 Gene.
Arshad S et al.
Biochemical Genetics, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S15
In-Silico Analyses of Nonsynonymous Variants in the BRCA1 Gene.
Arshad S et al.
Biochemical Genetics, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_4.xlsx › Sheet1
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Özkan S et al.
International Journal of Molecular Sciences, 2021
34207612 (PubMed )
Supplement: ijms-22-06226-s001.zip › SUPP_FIGURES_TABLES › SupplementaryTable4.xlsx › supp_table4
Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays.
Bouwman P et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Weren RD et al.
Human Mutation, 2017
27767231 (PubMed )
Supplement: HUMU-38-226-s002.xlsx › SupplementaryTable2
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2
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