Associated Papers
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 › BRCA1
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
38368609 (PubMed )
Supplement: NIHMS1970903-supplement-3.xlsx › Table_S2
Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
Patruno M et al.
Cancers, 2021
34572941 (PubMed )
Supplement: cancers-13-04714-s001.zip › cancers-1331888-supplementary.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 › 1._Used_in_analysis
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.
Langerud J et al.
Human Genomics, 2018
Structure-PPi: a module for the annotation of cancer-related single-nucleotide variants at protein-protein interfaces.
Vázquez M et al.
Bioinformatics (oxford, England), 2015
25765346 (PubMed )
Supplement: supp_btv142_manuscript-Vazquez_et_al_2014_suppl_R3.pdf
Identification and in silico analysis of functional SNPs of the BRCA1 gene.
Rajasekaran R et al.
Genomics, 2007
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.
Mirkovic N et al.
Cancer Research, 2004
Germline BRCA1 alterations in a population-based series of ovarian cancer cases.
Janezic SA et al.
Human Molecular Genetics, 1999
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