Associated Papers
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
40361347 (PubMed )
Supplement: cancers-17-01419-s001.zip › Table_S6.xlsx › Foglio1
Saturation genome editing-based clinical classification of BRCA2 variants.
Sahu S et al.
Nature, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › BRCA2
Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.
Sahu S et al.
Plos Genetics, 2023
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Hu C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
35665744 (PubMed )
Supplement: 41525_2022_302_MOESM3_ESM.xlsx › BRCA2_inSilico_PCs___AGVGD
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
Richardson ME et al.
American Journal of Human Genetics, 2021
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Hart SN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
Guidugli L et al.
American Journal of Human Genetics, 2018
Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.
Karchin R et al.
Cancer Informatics, 2008
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