Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 2024
Prevalence and spectrum of germline BRCA1 and BRCA2 in a cohort of ovarian cancer patients from the Salento peninsula (Southern Italy): a matter of preventive health.
De Matteis E et al.
Oncotarget, 2024
High-grade serous ovarian carcinoma with a sertoliform pattern associated with BRCA mutation: a clinicopathological and molecular analysis.
Travaglino A et al.
Virchows Archiv : an International Journal of Pathology, 2023
Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Cătană A et al.
Biomedicines, 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
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
Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?
Infante M et al.
International Journal of Molecular Sciences, 2022
Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.
D'Elia G et al.
Genes, 2022
Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment.
Secondino A et al.
Genes, 2022
Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.
Vidra R et al.
International Journal of Environmental Research and Public Health, 2022
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
Turchiano A et al.
Cancers, 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
Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
Patruno M et al.
Cancers, 2021
Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance.
Zelli V et al.
Cancers, 2021
Increased gene expression variability in BRCA1-associated and basal-like breast tumours.
Wiggins GAR et al.
Breast Cancer Research and Treatment, 2021
Characteristics and outcome of BRCA mutated epithelial ovarian cancer patients in Italy: A retrospective multicenter study (MITO 21).
Artioli G et al.
Gynecologic Oncology, 2021
Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
Solano AR et al.
Cancers, 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
Five Italian Families with Two Mutations in BRCA Genes.
Vietri MT et al.
Genes, 2020
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
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
Santonocito C et al.
Cancers, 2020
Clinicopathological features of women with epithelial ovarian cancer and double heterozygosity for BRCA1 and BRCA2: A systematic review and case report analysis.
Le Page C et al.
Gynecologic 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
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
Detection of BRCA1/2 large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods.
Concolino P et al.
Expert Review of Molecular Diagnostics, 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
BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
Concolino P et al.
International Journal of Molecular Sciences, 2019
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
Nones K et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2019
BRCAmut and "founder effect": a prospective study in a single academic institution.
Loizzi V et al.
Oncotarget, 2018
Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.
Palmirotta R et al.
International Journal of Molecular Sciences, 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 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
BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.
Pilato B et al.
Genes, Chromosomes & Cancer, 2016
The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.
Dutil J et al.
Breast Cancer Research and Treatment, 2015
BRCA1/2 and clinical outcome in a monoinstitutional cohort of women with hereditary breast cancer.
Sambiasi D et al.
Oncology Reports, 2014
DHPLC/SURVEYOR nuclease: a sensitive, rapid and affordable method to analyze BRCA1 and BRCA2 mutations in breast cancer families.
Pilato B et al.
Molecular Biotechnology, 2012
Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy.
Ghiorzo P et al.
Familial Cancer, 2012
Inherited pancreatic cancer syndromes.
Solomon S et al.
Cancer Journal (sudbury, Mass.), 0