Associated Papers
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
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
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Analysis and Interpretation of the Impact of Missense Variants in Cancer.
Petrosino M et al.
International Journal of Molecular Sciences, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
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
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
Woods NT et al.
Npj Genomic Medicine, 2016
Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity.
Gaboriau DC et al.
The Biochemical Journal, 2015
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.
Carvalho RS et al.
Plos One, 2014
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
Wappenschmidt B et al.
Plos One, 2012
Toward classification of BRCA1 missense variants using a biophysical approach.
Rowling PJ et al.
The Journal of Biological Chemistry, 2010
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 missense variation in human BRCA1 in the context of interspecific sequence variation.
Abkevich V et al.
Journal of Medical Genetics, 2004
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.
Mirkovic N et al.
Cancer Research, 2004
Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation.
Carvalho MA et al.
Cancer Biology & Therapy, 0