Associated Papers
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.
Han L et al.
Cancer Science, 2025
Onkopipe: A Snakemake Based DNA-Sequencing Pipeline for Clinical Variant Analysis in Precision Medicine.
Yang J et al.
Studies in Health Technology and Informatics, 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 pathogenic variants in 786 neuroblastoma patients.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Shah JB et al.
Nature Communications, 2022
Implementation of Next Generation Sequencing-Based Liquid Biopsy for Clinical Molecular Diagnostics in Non-Small Cell Lung Cancer (NSCLC) Patients.
Zulato E et al.
Diagnostics (basel, Switzerland), 2021
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population.
Dong H et al.
Journal of Medical Genetics, 2021
K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.
Baughan S et al.
Cancers, 2021
Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
Walsh T et al.
Npj Breast Cancer, 2021
Development and Analytical Validation of a Targeted Next-Generation Sequencing Panel to Detect Actionable Mutations for Targeted Therapy.
Wang D et al.
Oncotargets and Therapy, 2021
Genomic Profiling Reveals the Molecular Landscape of Gastrointestinal Tract Cancers in Chinese Patients.
Zhu C et al.
Frontiers in Genetics, 2021
Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.
Yasuda T et al.
Cancer Science, 2020
Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Qin N et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
Hata C et al.
Journal of Human Genetics, 2020
BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese.
Ko JM et al.
International Journal of Cancer, 2020
Clinical Targeted Next-Generation sequencing Panels for Detection of Somatic Variants in Gliomas.
Shin H et al.
Cancer Research and Treatment, 2020
Assessing the Impact of Data Preprocessing on Analyzing Next Generation Sequencing Data.
He B et al.
Frontiers in Bioengineering and Biotechnology, 2020
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
Chiral DNA sequences as commutable controls for clinical genomics.
Deveson IW et al.
Nature Communications, 2019
Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.
Dehghani M et al.
Frontiers in Molecular Biosciences, 2019
Evaluation of Commercial Circulating Tumor DNA Test in Metastatic Prostate Cancer.
Taavitsainen S et al.
Jco Precision Oncology, 2019
A robust targeted sequencing approach for low input and variable quality DNA from clinical samples.
So AP et al.
Npj Genomic Medicine, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.
Annala M et al.
European Urology, 2017
Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.
Grant RC et al.
Gastroenterology, 2015
Development and validation of the JAX Cancer Treatment Profile™ for detection of clinically actionable mutations in solid tumors.
Ananda G et al.
Experimental and Molecular Pathology, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014