Associated Papers
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
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
Does paired genetic testing improve targeted therapy choices and screening recommendations for patients with upper gastrointestinal cancers and their families? A prospective cohort of 42 patients.
Tatunay K et al.
Bmj Open, 2025
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.
Allington G et al.
Brain : a Journal of Neurology, 2025
Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study.
Shirota H et al.
Cancer Medicine, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
Incidental detection of pancreatic cancer by F-18-fluorodeoxyglucose positron emission tomography/computed tomography in a patient with hereditary breast and ovarian cancer syndrome.
Uchida N et al.
International Cancer Conference Journal, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
On the Boundary of Exploratory Genomics and Translation in Sequential Glioblastoma.
Tompa M et al.
International Journal of Molecular Sciences, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 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
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
[Return of Individual Genomic Results to Germline Pathogenic Variant Carriers of Hereditary Cancer in Population Based Cohort Study].
Ohneda K
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
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
Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers.
Mori T et al.
Cancer Medicine, 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
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
Cioffi A et al.
Cancers, 2023
Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants.
Ohneda K et al.
Breast Cancer (tokyo, Japan), 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
Clinicopathological and imaging features of ductal carcinoma in situ in BRCA1/2 mutation carriers.
Seki A et al.
Breast Disease, 2023
NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.
Jung K et al.
Scientific Reports, 2022
Characteristics of BRCA2 Mutated Prostate Cancer at Presentation.
Han H et al.
International Journal of Molecular Sciences, 2022
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
BRCA Mutations in Ovarian and Prostate Cancer: Bench to Bedside.
Boussios S et al.
Cancers, 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
Differences in age at diagnosis of ovarian cancer for each BRCA mutation type in Japan: optimal timing to carry out risk-reducing salpingo-oophorectomy.
Sekine M et al.
Journal of Gynecologic Oncology, 2022
Prevalence of Pathogenic Germline BRCA1/2 Variants and Their Association with Clinical Characteristics in Patients with Epithelial Ovarian Cancer in a Rural Area of Japan.
Abe A et al.
Genes, 2022
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa Y et al.
Jama Oncology, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021