Associated Papers
The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.
Shaw CA et al.
American Journal of Human Genetics, 2025
Mutational landscape of triple-negative breast cancer in African American women.
Yao S et al.
Nature Genetics, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 2024
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer.
Richau CS et al.
Cancer Medicine, 2024
Deciphering DNA repair gene mutational landscape in uterine corpus endometrial carcinoma patients using next generation sequencing.
Lou J et al.
American Journal of Cancer Research, 2024
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F et al.
Blood Advances, 2023
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 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
Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.
Matta BP et al.
Scientific Reports, 2022
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Hovland HN et al.
Familial Cancer, 2022
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
RAD52 influences the effect of BRCA1/2 missense variants on homologous recombination and gene reversion in Saccharomyces cerevisiae.
Lodovichi S et al.
Fems Yeast Research, 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
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.
Bellè F et al.
International Journal of Molecular Sciences, 2022
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
Value of the loss of heterozygosity to BRCA1 variant classification.
Santana Dos Santos E et al.
Npj Breast Cancer, 2022
Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.
Ebner S et al.
Oncotarget, 2022
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
Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.
Yoshida R et al.
Cancer Science, 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 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
Effect of BRCA1 missense variants on gene reversion in DNA double-strand break repair mutants and cell cycle-arrested cells of Saccharomyces cerevisiae.
Lodovichi S et al.
Mutagenesis, 2020
Next-Generation Sequencing Identifies BRCA1 and/or BRCA2 Mutations in Women at High Hereditary Risk for Breast Cancer with Shorter Telomere Length.
Peker Eyüboğlu İ et al.
Omics : a Journal of Integrative Biology, 2020
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019