Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.
Kulikowska B et al.
Cancers, 2026
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.
Mariya T et al.
Human Genome Variation, 2026
Whole-genome landscapes of 1,364 breast cancers.
Kim R et al.
Nature, 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
From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape.
Al Bader SB et al.
Biomedicines, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 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
Molecular characterization of hereditary breast and ovarian cancer patients from a public precision medicine service in the Southeast Brazilian population.
Ribeiro AAF et al.
Scientific Reports, 2025
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.
Bilotta A et al.
Genes, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.
Vietri MT et al.
International Journal of Molecular Sciences, 2025
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 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
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.
Yang M et al.
Npj Precision Oncology, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
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
Germline BRCA1/2 status and chemotherapy response score in high-grade serous ovarian cancer.
Morgan RD et al.
British Journal of Cancer, 2024
Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.
Rocca V et al.
Current Issues in Molecular Biology, 2024
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Pitiot AS et al.
Clinical Genetics, 2024
TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil.
Corrêa TS et al.
Genes, 2024
The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.
Hinić S et al.
Jnci Cancer Spectrum, 2024
Prospective Study of Homologous Recombination Repair Gene Mutation Prevalence in Patients With Advanced Prostate Cancer From Latin America: Challenges and Future Approaches.
Manneh R et al.
Jco Precision Oncology, 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
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
CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.
Corso G et al.
Jama Network Open, 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
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
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
Kansuttiviwat C et al.
Npj Genomic Medicine, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama 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
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.
Chen C et al.
Cell Discovery, 2023
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.
Wei B et al.
Cancer Medicine, 2023