Associated Papers
Profiling BRCA1-BRCT interactions and their functional relevance at amino acid resolution.
Mangkusaputra V et al.
Nucleic Acids Research, 2025
40966517 (PubMed )
Supplement: gkaf848_supplemental_files.zip › Sup_table_2___ABX_CtIP_complete_count_and_scores.xlsx › BRCT3_ABX
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
37718511 (PubMed )
Supplement: mmc1.pdf
Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
Nepomuceno TC et al.
Scientific Reports, 2022
36171434 (PubMed )
Supplement: 41598_2022_20500_MOESM1_ESM.pdf
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 › BRCA1_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
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
Woods NT et al.
Npj Genomic Medicine, 2016
28781887 (PubMed )
Supplement: npjgenmed20161-s1.pdf
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.
Carvalho RS et al.
Plos One, 2014
24845084 (PubMed )
Supplement: pone.0097766.s001.xlsx › Supplementary_Materials_1
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
Lee MS et al.
Cancer Research, 2010
Twenty-three novel BRCA1 and BRCA2 sequence variations identified in a cohort of Swiss breast and ovarian cancer families.
Maillet P et al.
Cancer Genetics and Cytogenetics, 2006
Select a paper to view details