Associated Papers
Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.
Kulikowska B et al.
Cancers, 2026
Functional assessment of protein variants in structured domains by fluorescence cross-correlation spectroscopy.
Mateu-Regué À et al.
Scientific Reports, 2026
Loss of heterozygosity exposes germline mutations in complex I and drives Warburg metabolism in oncocytic carcinoma of the thyroid.
de la Calle Arregui C et al.
Biorxiv : the Preprint Server for Biology, 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
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
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Diabate M et al.
Plos Genetics, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays.
Caleca L et al.
Frontiers in Oncology, 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
BRCA1 transports the DNA damage signal for CDDP-induced centrosome amplification through the centrosomal Aurora A.
Qi H et al.
Cancer Science, 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
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
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
BRCA1/ATF1-Mediated Transactivation is Involved in Resistance to PARP Inhibitors and Cisplatin.
Endo S et al.
Cancer Research Communications, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
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
Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.
Huang C et al.
Genome Biology, 2021
PDX-derived organoids model in vivo drug response and secrete biomarkers.
Huang L et al.
Jci Insight, 2020
Characterization of BRCA1-deficient premalignant tissues and cancers identifies Plekha5 as a tumor metastasis suppressor.
Liu J et al.
Nature Communications, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 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
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.
Yost S et al.
Jnci Cancer Spectrum, 2019
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
Ernst C et al.
Bmc Medical Genomics, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.
Yang XR et al.
Human Genetics, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.
Peixoto A et al.
Clinical Genetics, 2015
Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.
Minucci A et al.
Expert Review of Molecular Diagnostics, 2015
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
Bouwman P et al.
Cancer Discovery, 2013
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.
Towler WI et al.
Human Mutation, 2013
Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.
Laraqui A et al.
International Journal of Medical Sciences, 2013
Prevalence of the BRCA1 c.68_69delAG (BIC: 185delAG) mutation in women with breast cancer from north-central Poland and a review of the literature on other regions of the country.
Hartwig M et al.
Contemporary Oncology (poznan, Poland), 2013
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.
Karami F et al.
Biomed Research International, 2013