Associated Papers
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Functional evaluation and clinical classification of BRCA2 variants.
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Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4A
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
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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
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
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Supplement: 41525_2022_302_MOESM3_ESM.xlsx › BRCA2_inSilico_PCs___AGVGD
The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.
Shui L et al.
Journal of Translational Medicine, 2021
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
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American Journal of Human Genetics, 2021
Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.
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Npj Breast Cancer, 2020
32377563 (PubMed )
Supplement: 41523_2020_159_MOESM4_ESM.xlsx › Supplemental_Table_1
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