Associated Papers
Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.
Vande Perre P et al.
International Journal of Molecular Sciences, 2025
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C et al.
European Journal of Human Genetics : Ejhg, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 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
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs.
Biswas K et al.
Cell Reports Methods, 2023
A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.
Boga I et al.
European Journal of Breast Health, 2023
Utilization of cytologic cell blocks for targeted sequencing of solid tumors.
Vormittag-Nocito E et al.
Cancer Medicine, 2023
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.
Zanti M et al.
Frontiers in Genetics, 2023
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Bisgin A et al.
Breast (edinburgh, Scotland), 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.
Fanale D et al.
Frontiers in Oncology, 2021
The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
Andrikopoulou A et al.
Frontiers in Oncology, 2021
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical 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
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
Fernández-Lopez JC et al.
Human Genomics, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
Subgroups of familial and aggressive prostate cancer with considerable frequencies of BRCA2 mutations.
Maier C et al.
The Prostate, 2014
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.
Cunningham JM et al.
Scientific Reports, 2014