Associated Papers
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.
Mariya T et al.
Human Genome Variation, 2026
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
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
Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.
Boujemaa M et al.
Journal of Translational Medicine, 2025
Genomic and Epigenomic ctDNA Profiling in Liquid Biopsies from Heavily Pretreated Patients with DNA Damage Response-Deficient Tumors.
Silverman IM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?
Schubart C et al.
International Journal of Cancer, 2025
Multigene germline and somatic testing for epithelial ovarian cancer in China.
Li L et al.
Npj Precision Oncology, 2025
Prostate-Related Germline Variant Frequencies Detected in a Cohort of Men With Metastatic Prostate Cancer in Northern India.
Batra A et al.
Jco Precision Oncology, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer 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
The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment.
Matykiewicz J et al.
Scientific Reports, 2025
Significantly increased load of hereditary cancer-linked germline variants in infertile men.
Valkna A et al.
Human Reproduction Open, 2025
Germinal mutations among patients with breast cancer in Colombia: is BRCA3 coming?
Rojas LXR et al.
Ecancermedicalscience, 2025
Genomic instability and CCNE1 amplification as emerging biomarkers for stratifying high-grade serous ovarian cancer.
Conca E et al.
Frontiers in Oncology, 2025
BRCA1/2 mutations and outcomes among Middle Eastern patients with early-onset breast cancer in Oman.
Al Amri WS et al.
The Oncologist, 2024
Beyond HRD Status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer.
Kjeldsen MK et al.
Cancer Research Communications, 2024
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
Alterations in the expression of homologous recombination repair (HRR) genes in breast cancer tissues considering germline BRCA1/2 mutation status.
Laczmanska I et al.
Breast Cancer Research and Treatment, 2024
PALB2 analysis in the diagnostic process of breast cancer: An Italian monocentric experience.
Tibiletti MG et al.
Tumori, 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
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
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 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
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
Bilyalov A et al.
Cancers, 2023
Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.
Wei B et al.
Cancer Medicine, 2023
Germline drivers of gynecologic carcinosarcomas.
Sia TY et al.
Gynecologic Oncology, 2023
BRCA2 Germline Mutations Identify Gastric Cancers Responsive to PARP Inhibitors.
Petrelli A et al.
Cancer Research, 2023
BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.
Mazzonetto P et al.
Breast Cancer Research and Treatment, 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
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Smyk M et al.
Genes, 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer.
Carvalho CM et al.
Revista Brasileira De Ginecologia E Obstetricia : Revista Da Federacao Brasileira Das Sociedades De Ginecologia E Obstetricia, 2023
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
Adam F et al.
Bmc Medical Genomics, 2023
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.
Wei CH et al.
Plos One, 2023
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022