Associated Papers
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.
Vietri MT et al.
International Journal of Molecular Sciences, 2025
Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.
Han L et al.
Cancer Science, 2025
PALB2 analysis in the diagnostic process of breast cancer: An Italian monocentric experience.
Tibiletti MG et al.
Tumori, 2024
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
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Hauke J et al.
Journal of Medical Genetics, 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
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
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.
Foglietta J et al.
Genes, 2020
Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients.
Tedaldi G et al.
Diagnostics (basel, Switzerland), 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
Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.
Nicolussi A et al.
Peerj, 2019
Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.
Cadoo KA et al.
Jco Precision Oncology, 2019
Endometrial Cancers in BRCA1 or BRCA2 Germline Mutation Carriers: Assessment of Homologous Recombination DNA Repair Defects.
Smith ES et al.
Jco Precision Oncology, 2019
BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study.
Marchetti C et al.
Annals of Surgical Oncology, 2018
BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.
Cardoso FC et al.
Human Genomics, 2018
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Palmero EI et al.
Scientific Reports, 2018
Main implications related to the switch to BRCA1/2 tumor testing in ovarian cancer patients: a proposal of a consensus.
Capoluongo E et al.
Oncotarget, 2018
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
Copson ER et al.
The Lancet. Oncology, 2018
Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.
Solano AR et al.
Oncotarget, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.
Fernandes GC et al.
Oncotarget, 2016
TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy.
Gray PN et al.
Oncotarget, 2016
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
Mucaki EJ et al.
Bmc Medical Genomics, 2016
Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.
Kang HP et al.
Peerj, 2016