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
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
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
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
Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation.
Uppugunduri CRS et al.
The Pharmacogenomics Journal, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.
Fierheller CT et al.
Cancers, 2021
An Algorithm Combining Patient Performance Status, Second Hit Analysis, PROVEAN and Dann Prediction Tools Could Foretell Sensitization to PARP Inhibitors in Digestive, Skin, Ovarian and Breast Cancers.
Chevrier S et al.
Cancers, 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
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
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
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.
Yost S et al.
Jnci Cancer Spectrum, 2019
Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.
Nassar AH et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Pancreatic cancer as a sentinel for hereditary cancer predisposition.
Young EL et al.
Bmc Cancer, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 2017
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.
Flower KJ et al.
Epigenetics, 2015
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.
Cunningham JM et al.
Scientific Reports, 2014
Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.
Ruiz A et al.
Biomed Research International, 2014
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
Bouwman P et al.
Cancer Discovery, 2013
BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela.
Lara K et al.
Biological Research, 2012
Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.
Akbari MR et al.
Journal of Medical Genetics, 2011
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
Borg A et al.
Human Mutation, 2010
Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.
Lee E et al.
Breast Cancer Research : Bcr, 2008
Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information.
Osorio A et al.
Human Mutation, 2007
Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation.
Weber F et al.
American Journal of Human Genetics, 2006
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
Judkins T et al.
Cancer Research, 2005
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
Díez O et al.
Human Mutation, 2003
Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer.
Osorio A et al.
International Journal of Cancer, 2002
Spanish family study on hereditary breast and/or ovarian cancer: analysis of the BRCA1 gene.
de la Hoya M et al.
International Journal of Cancer, 2001
Adaptation of conformation-sensitive gel electrophoresis to an ALFexpress DNA sequencer to screen BRCA1 mutations.
Blesa JR et al.
Biotechniques, 2000