Associated Papers
Molecular characteristics and prognostic insights into BRCA-associated breast cancer in Kazakhstan.
Samigatova A et al.
Scientific Reports, 2026
Comparative analysis of a founder BRCA2 double mutation versus single mutation carriers reveals no additional clinical risk.
Caliendo G et al.
Cancer Genetics, 2026
A phase Ib study of sapacitabine and olaparib in patients with BRCA1/2-mutated metastatic breast cancer.
Lynce F et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.
Bilotta A et al.
Genes, 2025
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
PALB2 analysis in the diagnostic process of breast cancer: An Italian monocentric experience.
Tibiletti MG et al.
Tumori, 2024
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 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
Deciphering DNA repair gene mutational landscape in uterine corpus endometrial carcinoma patients using next generation sequencing.
Lou J et al.
American Journal of Cancer Research, 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
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
Di Rado S et al.
Cancers, 2023
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.
Yamazawa K et al.
Cancer Science, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
Prognostic impact of germline BRCA1/2 pathogenic variants in breast cancer.
Corso G et al.
Breast Cancer Research and Treatment, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
BRCA testing on buccal swab to improve access to healthcare and cancer prevention: a performance evaluation.
De Paolis E et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 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
Targeted Mutational Analysis of Circulating Tumor DNA to Decipher Temporal Heterogeneity of High-Grade Serous Ovarian Cancer.
Paracchini L et al.
Cancers, 2022
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation.
Vietri MT et al.
Genes, 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
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.
Stella S et al.
Cancer Management and Research, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.
Khoruddin NA et al.
Scientific Reports, 2021
Solid Pseudopapillary Neoplasm of the Pancreas and Abdominal Desmoid Tumor in a Patient Carrying Two Different BRCA2 Germline Mutations: New Horizons from Tumor Molecular Profiling.
Mafficini A et al.
Genes, 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
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Five Italian Families with Two Mutations in BRCA Genes.
Vietri MT et al.
Genes, 2020
Rare germline genetic variants and risk of aggressive prostate cancer.
Nguyen-Dumont T et al.
International Journal of Cancer, 2020
Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
Fanale D et al.
Cancers, 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
Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.
Li J et al.
Journal of Translational Medicine, 2020
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Mesman RLS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020