Associated Papers
Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan.
Habano E et al.
Journal of Human Genetics, 2026
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
Fanidis D et al.
Genomics, 2026
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 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
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Breast cancer risk associated with BRCA1 and BRCA2 pathogenic variants in the Eastern Chinese population.
Yu S et al.
Cancer Pathogenesis and Therapy, 2025
Clinicogenomic characteristics and synthetic lethal implications of germline homologous recombination-deficient hepatocellular carcinoma.
An J et al.
Hepatology (baltimore, Md.), 2023
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 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
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.
Bang YJ et al.
Cancer Research and Treatment, 2022
Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
Kasugai Y et al.
Cancer Science, 2022
The first comprehensive database of germline pathogenic variants in East Asian cancer patients.
Shi X et al.
Database : the Journal of Biological Databases and Curation, 2021
Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.
Azribi F et al.
Bmc Cancer, 2021
Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.
Sun H et al.
Nature Communications, 2021
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
Clinical Characteristics and Exploratory Genomic Analyses of Germline BRCA1 or BRCA2 Mutations in Breast Cancer.
Park S et al.
Molecular Cancer Research : Mcr, 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
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.
Momozawa Y et al.
Journal of the National Cancer Institute, 2020
Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.
Choi MC et al.
Cancer Research and Treatment, 2020
Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.
Terashima T et al.
Oncotarget, 2019
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M et al.
Haematologica, 2019
A systematic review of the prevalence of DNA damage response gene mutations in prostate cancer.
Lang SH et al.
International Journal of Oncology, 2019
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
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Yamaguchi-Kabata Y et al.
Journal of Human Genetics, 2018
Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel.
Kwong A et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Germline Variants of Prostate Cancer in Japanese Families.
Hayano T et al.
Plos One, 2016
The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.
Kang E et al.
Breast Cancer Research and Treatment, 2015
Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.
Kwong A et al.
Plos One, 2012
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
Borg A et al.
Human Mutation, 2010
Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.
Han SH et al.
Clinical Genetics, 2006
Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC.
Kim BY et al.
Biochemical and Biophysical Research Communications, 2006