Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.
Elze L et al.
Journal of the National Cancer Institute, 2024
Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants.
Ustun Yilmaz S et al.
Genes, 2024
The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients.
Grigore LG et al.
Current Issues in Molecular Biology, 2024
BRCA-associated hereditary male cancers: can gender affect the prevalence and spectrum of germline pathogenic variants?
Fanale D et al.
Frontiers in Oncology, 2024
Long-molecule scars of backup DNA repair in BRCA1- and BRCA2-deficient cancers.
Setton J et al.
Nature, 2023
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
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa Y et al.
Jama Oncology, 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
Reliable assessment of BRCA1 and BRCA2 germline variants by next-generation sequencing: a multicenter study.
Zhang R et al.
Breast Cancer (tokyo, Japan), 2021
Five Italian Families with Two Mutations in BRCA Genes.
Vietri MT et al.
Genes, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.
Incorvaia L et al.
Cancers, 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
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue.
de Jonge MM et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Germline genetic variants in men with prostate cancer and one or more additional cancers.
Pilié PG et al.
Cancer, 2017
FANCD2 limits replication stress and genome instability in cells lacking BRCA2.
Michl J et al.
Nature Structural & Molecular Biology, 2016
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
Heidemann S et al.
Breast Cancer Research and Treatment, 2012
Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics.
Zuradelli M et al.
Breast Cancer Research and Treatment, 2010