Associated Papers
Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.
Rocca V et al.
Current Issues in Molecular Biology, 2024
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Diabate M et al.
Plos Genetics, 2023
37578980 (PubMed )
Supplement: pgen.1010739.s013.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
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
35887294 (PubMed )
Supplement: ijms-23-07946-s001.zip › Supplementary_Table_S3.xlsx › BRCA1_Dataset
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Hauke J et al.
Journal of Medical Genetics, 2022
33273034 (PubMed )
Supplement: jmedgenet-2020-107353supp001.pdf
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_1.xlsx › Sheet1
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
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
33558524 (PubMed )
Supplement: 41439_2021_140_MOESM3_ESM.pdf
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
32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › GCC
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
30209399 (PubMed )
Supplement: NIHMS1501643-supplement-2.xlsx › Sheet1
Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.
Sharma-Oates A et al.
Precision Clinical Medicine, 2018
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
Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.
Thirthagiri E et al.
Breast Cancer Research : Bcr, 2008
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
van der Hout AH et al.
Human Mutation, 2006
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