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
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women.
Moukadem HA et al.
World Journal of Clinical Oncology, 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
CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.
Corso G et al.
Jama Network Open, 2024
Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.
de Freitas Ribeiro AA et al.
European Journal of Medical Research, 2024
Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.
Ho WK et al.
The Lancet Regional Health. Western Pacific, 2024
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.
Borcoman E et al.
International Journal of Molecular Sciences, 2023
HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?
Kekeeva T et al.
International Journal of Molecular Sciences, 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
Cioffi A et al.
Cancers, 2023
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot.
Pan Y et al.
Journal of Thoracic Disease, 2022
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa Y et al.
Jama Oncology, 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.
Fu X et al.
Frontiers in Cell and Developmental Biology, 2022
The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type.
Oliverio A et al.
Frontiers in Genetics, 2022
Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.
Azzollini J et al.
Frontiers in Oncology, 2022
Increased gene expression variability in BRCA1-associated and basal-like breast tumours.
Wiggins GAR et al.
Breast Cancer Research and Treatment, 2021
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G et al.
Cancers, 2021
Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
Walsh T et al.
Npj Breast Cancer, 2021
BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.
Chian J et al.
Frontiers in Molecular Biosciences, 2021
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.
Momozawa Y et al.
Journal of the National Cancer Institute, 2020
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Using next-generation sequencing to redefine BRCAness in triple-negative breast cancer.
Lin PH et al.
Cancer Science, 2020
Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population.
Jiang Y et al.
Biomed Research International, 2020
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 2019
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies.
Toss A et al.
Cancers, 2019
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Palmero EI et al.
Scientific Reports, 2018
Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.
Jara L et al.
Biological Research, 2017
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
Walker LC et al.
European Journal of Human Genetics : Ejhg, 2017
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa M et al.
Hereditary Cancer in Clinical Practice, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017