Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.
Elmetnawy W et al.
Scientific Reports, 2025
Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.
Deugd R et al.
Diseases (basel, Switzerland), 2025
Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.
Faulkner LG et al.
Cancer Investigation, 2025
The efficacy of olaparib as salvage therapy in an advanced intrahepatic cholangiocarcinoma patient harboring somatic BRCA1 and PALB2 pathogenic variants: a case report and literature review.
Wang J et al.
Frontiers in Pharmacology, 2025
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Molecular Cancer, 2024
Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.
Wang Y et al.
Bmc Medicine, 2024
Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.
Youssef ASE et al.
Clinical and Experimental Medicine, 2023
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.
Wen H et al.
Jama Network Open, 2023
Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.
Cifuentes GA et al.
British Journal of Cancer, 2023
BRCA1/2 Reversion Mutations in Patients Treated with Poly ADP-Ribose Polymerase (PARP) Inhibitors or Platinum Agents.
Darabi S et al.
Medicina (kaunas, Lithuania), 2022
Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia.
Olaya J et al.
Cureus, 2022
Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study.
Garcia-Casado Z et al.
Journal of Personalized Medicine, 2022
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C et al.
Communications Biology, 2022
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022
PARP Inhibitor Insensitivity to BRCA1/2 Monoallelic Mutations in Microsatellite Instability-High Cancers.
Sokol ES et al.
Jco Precision Oncology, 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
Expression Profiling in Ovarian Cancer Reveals Coordinated Regulation of BRCA1/2 and Homologous Recombination Genes.
Custódio N et al.
Biomedicines, 2022
The Mutational Landscape of Metastatic Castration-sensitive Prostate Cancer: The Spectrum Theory Revisited.
Deek MP et al.
European Urology, 2021
Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
Herzog JS et al.
Npj Breast Cancer, 2021
Five Italian Families with Two Mutations in BRCA Genes.
Vietri MT et al.
Genes, 2020
Wnt-pathway Activating Mutations Are Associated with Resistance to First-line Abiraterone and Enzalutamide in Castration-resistant Prostate Cancer.
Isaacsson Velho P et al.
European Urology, 2020
Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening.
Kadri MSN et al.
Frontiers in Oncology, 2020
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Abul-Husn NS et al.
Genome Medicine, 2019
High Proportion of Potential Candidates for Immunotherapy in a Chilean Cohort of Gastric Cancer Patients: Results of the FORCE1 Study.
Cordova-Delgado M et al.
Cancers, 2019
Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.
Oliver J et al.
Frontiers in Oncology, 2019
Landscape of genomic alterations in high-grade serous ovarian cancer from exceptional long- and short-term survivors.
Yang SYC et al.
Genome Medicine, 2018
The role of genomic profiling in adolescents and young adults (AYAs) with advanced cancer participating in phase I clinical trials.
McVeigh TP et al.
European Journal of Cancer (oxford, England : 1990), 2018
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.
Torres D et al.
Scientific Reports, 2017
Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.
Vaclová T et al.
Human Molecular Genetics, 2016
DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.
Vaclová T et al.
Breast Cancer Research and Treatment, 2015
Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.
Gonzalez-Hormazabal P et al.
Breast Cancer Research and Treatment, 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