Associated Papers
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.
Ramadane-Morchadi L et al.
American Journal of Human Genetics, 2025
40233743 (PubMed )
Supplement: mmc2.xlsx › Hoja1
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Diabate M et al.
Plos Genetics, 2023
37578980 (PubMed )
Supplement: pgen.1010739.s005.xlsx › Sheet1
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
36385461 (PubMed )
Supplement: IJC-152-1159-s002.xlsx › BRCA1
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_T7
Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.
Sangree AK et al.
Nature Communications, 2022
35288574 (PubMed )
Supplement: 41467_2022_28884_MOESM10_ESM.xlsx › variant-ABE_library_annotation
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
34906453 (PubMed )
Supplement: mmc1.xlsx › Sup_Table_3_Variantdata
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
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Chau C et al.
Cancers, 2019
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
30209399 (PubMed )
Supplement: NIHMS1501643-supplement-2.xlsx › Sheet1
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