Associated Papers
Different association of gBRCA1 and gBRCA2 variants with HER2-low status in invasive breast cancer: findings from a Ukrainian study.
Livshun S et al.
Scientific Reports, 2025
Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women.
Bodunova N et al.
Bmc Women's Health, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
BRCA1 and BRCA2 Mutations in Polish Women with Ductal Carcinoma In Situ.
Feszak S et al.
Cancers, 2025
High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.
Shumilova S et al.
International Journal of Molecular Sciences, 2024
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 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
Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.
Chen C et al.
Cell Discovery, 2023
RediScore: Prospective validation of a pipeline for homologous recombination deficiency analysis.
Tsantikidi A et al.
Oncology Letters, 2023
Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Cătană A et al.
Biomedicines, 2023
Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.
Yanus GA et al.
Familial Cancer, 2023
The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.
Mroczek M et al.
Frontiers in Oncology, 2023
Case report: Complete and durable response to larotrectinib (TRK inhibitor) in an infant diagnosed with angiosarcoma harbouring a KHDRBS1-NTRK3 fusion gene.
Cervi C et al.
Frontiers in Oncology, 2023
BRCA1/2 Reversion Mutations in Patients Treated with Poly ADP-Ribose Polymerase (PARP) Inhibitors or Platinum Agents.
Darabi S et al.
Medicina (kaunas, Lithuania), 2022
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C et al.
Communications Biology, 2022
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.
Ogrodniczak A et al.
Hereditary Cancer in Clinical Practice, 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
Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
Yao Q et al.
Frontiers in Oncology, 2022
Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.
Azzollini J et al.
Frontiers in Oncology, 2022
Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries.
Kotoula V et al.
Breast Cancer (tokyo, Japan), 2021
Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.
Łukomska A et al.
Cancers, 2021
A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review.
Loza P et al.
Hereditary Cancer in Clinical Practice, 2021
Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
Lovejoy LA et al.
Genes, 2020
Five Italian Families with Two Mutations in BRCA Genes.
Vietri MT et al.
Genes, 2020
Clinical Characteristics and Exploratory Genomic Analyses of Germline BRCA1 or BRCA2 Mutations in Breast Cancer.
Park S et al.
Molecular Cancer Research : Mcr, 2020
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
Fostira F et al.
Journal of Medical Genetics, 2020
Somatic BRCA1 mutations in clinically sporadic breast cancer with medullary histological features.
Rechsteiner M et al.
Journal of Cancer Research and Clinical Oncology, 2018
BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.
Jakimovska M et al.
Breast Cancer Research and Treatment, 2018
Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting.
Dougherty BA et al.
Oncotarget, 2017
Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic.
Winter C et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
Couch FJ et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.
Stavropoulou AV et al.
Plos One, 2013
Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.
Kroiss R et al.
Human Mutation, 2005
Detection of germline mutations in the BRCA1 gene by RNA-based sequencing.
Jakubowska A et al.
Human Mutation, 2001