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
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
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
BRCA1 and BRCA2 Mutations in Polish Women with Ductal Carcinoma In Situ.
Feszak S et al.
Cancers, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Molecular Cancer, 2024
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 2024
Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies.
Godinez Paredes JM et al.
Breast Cancer Research and Treatment, 2024
Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.
Wei B et al.
Cancer Medicine, 2023
RediScore: Prospective validation of a pipeline for homologous recombination deficiency analysis.
Tsantikidi A et al.
Oncology Letters, 2023
Germline DNA-Repair Genes and HOXB13 Mutations in Korean Men with Metastatic Prostate Cancer: Data from a Large Korean Cohort.
Song SH et al.
The World Journal of Men's Health, 2023
A case of ovarian carcinosarcoma with a germline pathogenic variant of BRCA2 involving a perforated appendix with an abscess.
Saito A et al.
The Journal of Obstetrics and Gynaecology Research, 2023
Metastatic lung adenocarcinoma with BRCA2 mutation and longstanding disease control on olaparib, developing triple negative breast adenocarcinoma with additional BRCA2 reversion mutation: a case report.
Del Giglio A et al.
Journal of Medical Case Reports, 2023
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Simultaneous Occurrence of Multiple Neoplasms in Children with Cancer Predisposition Syndromes: Collaborating with Abnormal Genes.
Telman G et al.
Genes, 2023
Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.
Wen H et al.
Jama Network Open, 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
Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.
Sivakumar S et al.
Nature Communications, 2022
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa Y et al.
Jama Oncology, 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
Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.
Doraczynska-Kowalik A et al.
Frontiers in Genetics, 2022
Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.
Łukomska A et al.
Cancers, 2021
Five Italian Families with Two Mutations in BRCA Genes.
Vietri MT et al.
Genes, 2020
Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.
Turashvili G et al.
Cancers, 2020
Prostate Cancer Risk by BRCA2 Genomic Regions.
Nyberg T et al.
European Urology, 2020
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.
Rotunno M et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Velázquez C et al.
Journal of Translational Medicine, 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
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
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
Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis.
Pogoda K et al.
Journal of 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
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M et al.
Haematologica, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.
Wong C et al.
Plos Genetics, 2019
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018