Associated Papers
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
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
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
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Dines JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 2._Full_includes_CIP_and_0_star
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
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
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
Díez O et al.
Human Mutation, 2003
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