Associated Papers
Unique hematological presentation of patients with biallelic inactivation of FANCD1/BRCA2.
Niewisch MR et al.
Blood Advances, 2026
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.
Mariya T et al.
Human Genome Variation, 2026
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.
Iyevleva AG et al.
International Journal of Molecular Sciences, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Artificial intelligence-driven microsatellite instability profiling reveals distinctive genetic features in patients with lung cancer.
Thomas QD et al.
Cancer, 2025
Hotspot BRCA1/2 Mutations in Tumors With Microsatellite Instability Suggest Passenger Mutation Status and Evaluation of Therapeutic Options.
Rajagopal PS et al.
Jco Precision Oncology, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 2025
Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.
Varghese AM et al.
Nature Medicine, 2025
Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.
Sinan H et al.
Jco Precision Oncology, 2025
Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.
Aguilar D et al.
Jco Global Oncology, 2025
Next-generation sequencing identifies the presence of protein phosphatase 1D, PPM1D, as a potential biomarker of resistance to PARP inhibition in metastatic castration-resistant prostate cancer.
Vellky JE et al.
American Journal of Clinical and Experimental Urology, 2025
Mutation Spectrum Analysis of BRCA1/2 Genes for Hereditary Breast and Ovarian Cancer in the Indian Population.
Lila K et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2024
Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.
Kerr SM et al.
European Journal of Human Genetics : Ejhg, 2024
Acquired cystic disease associated renal cell carcinoma: A clinicopathologic and molecular study of 31 tumors.
Palathingal Bava E et al.
Human Pathology, 2024
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.
Idogawa M et al.
Journal of Human Genetics, 2024
Correction: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.
Idogawa M et al.
Journal of Human Genetics, 2024
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Wu Z et al.
Bmc Cancer, 2024
Comprehensive Molecular Profiling of NPM1-Mutated Acute Myeloid Leukemia Using RNAseq Approach.
Petiti J et al.
International Journal of Molecular Sciences, 2024
Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.
Fu K et al.
Scientific Reports, 2024
Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.
Ho WK et al.
The Lancet Regional Health. Western Pacific, 2024
Genetic landscape of homologous recombination repair and practical outcomes of PARPi therapy in ovarian cancer management.
Chen M et al.
Therapeutic Advances in Medical 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
Integrated Molecular Characterization of HER2-Low Breast Cancer Using Next Generation Sequencing (NGS).
Merlin JL et al.
Biomedicines, 2023
Clinical significance of genetic profiling based on different anatomic sites in patients with mucosal melanoma who received or did not receive immune checkpoint inhibitors.
Wang HY et al.
Cancer Cell International, 2023
HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?
Kekeeva T et al.
International Journal of Molecular Sciences, 2023
A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland.
McVeigh TP et al.
Familial Cancer, 2023
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
RB1 aberrations predict outcomes of immune checkpoint inhibitor combination therapy in NSCLC.
Wang Q et al.
Frontiers in Oncology, 2023
Characteristics of BRCA2 Mutated Prostate Cancer at Presentation.
Han H et al.
International Journal of Molecular Sciences, 2022
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.
Elalaoui SC et al.
Breast Cancer Research and Treatment, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Outcomes of Patients with Metastatic Castration-Resistant Prostate Cancer According to Somatic Damage DNA Repair Gene Alterations.
Neviere Z et al.
Current Oncology (toronto, Ont.), 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
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Evans DG et al.
Journal of Medical Genetics, 2022
Expression Profiling in Ovarian Cancer Reveals Coordinated Regulation of BRCA1/2 and Homologous Recombination Genes.
Custódio N et al.
Biomedicines, 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
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.
Stella S et al.
Cancer Management and Research, 2022
Alterations in BRCA2 as Determinants of Therapy Response in Prostate Cancer.
Hofstad M et al.
Critical Reviews in Oncogenesis, 2022
Evidence for accelerated aging in mammary epithelia of women carrying germline BRCA1 or BRCA2 mutations.
Shalabi SF et al.
Nature Aging, 2021
Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.
Lotan TL et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
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
The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study.
Toss A et al.
Diagnostics (basel, Switzerland), 2021
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
Lerner-Ellis J et al.
Journal of Cancer Research and Clinical Oncology, 2021